ConVarT

Amino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)

Total amino acid identity (%)

Variation associated amino acid identity (%)

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Acceptor Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
4-106155108-G-A	ENST00000380013	p.Gln3Gln	Synonymous Variant	0	0	0	rs183431550
4-106155108-G-A	ENST00000540549	p.Gln3Gln	Synonymous Variant	0	0	0	rs183431550
4-106155109-G-C	ENST00000380013	p.Asp4His	Missense Variant	0	0	0	rs1465868048
4-106155109-G-C	ENST00000540549	p.Asp4His	Missense Variant	0	0	0	rs1465868048
4-106155109-G-T	ENST00000380013	p.Asp4Tyr	Missense Variant	0	0	0	rs1465868048
4-106155109-G-T	ENST00000540549	p.Asp4Tyr	Missense Variant	0	0	0	rs1465868048
4-106155112-A-G	ENST00000380013	p.Arg5Gly	Missense Variant	0	0	0	rs749172180
4-106155112-A-G	ENST00000540549	p.Arg5Gly	Missense Variant	0	0	0	rs749172180
4-106155113-G-C	ENST00000380013	p.Arg5Thr	Missense Variant	0	0	0	rs568091851
4-106155113-G-C	ENST00000540549	p.Arg5Thr	Missense Variant	0	0	0	rs568091851
4-106155114-A-G	ENST00000380013	p.Arg5Arg	Synonymous Variant	0	0	0	rs200508474
4-106155114-A-G	ENST00000540549	p.Arg5Arg	Synonymous Variant	0	0	0	rs200508474
4-106155115-A-G	ENST00000380013	p.Thr6Ala	Missense Variant	0	0	0	rs745910165
4-106155115-A-G	ENST00000540549	p.Thr6Ala	Missense Variant	0	0	0	rs745910165
4-106155120-C-T	ENST00000380013	p.Asn7Asn	Synonymous Variant	0	0	0	rs1369646936
4-106155120-C-T	ENST00000540549	p.Asn7Asn	Synonymous Variant	0	0	0	rs1369646936
4-106155121-C-G	ENST00000380013	p.His8Asp	Missense Variant	20	31400	0.000637	rs147112198
4-106155121-C-G	ENST00000540549	p.His8Asp	Missense Variant	20	31400	0.000637	rs147112198
4-106155121-C-T	ENST00000380013	p.His8Tyr	Missense Variant	0	0	0	rs147112198
4-106155121-C-T	ENST00000540549	p.His8Tyr	Missense Variant	0	0	0	rs147112198

Showing 1 to 20 of 3,842 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

O-GlcNAc

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TET2	Q6N021	Phosphorylation	102	S102-p	KRtVsEPsLSGLLQI	223.81	56660793
TET2	Q6N021	Phosphorylation	1099	S1099-p	PTKRTAAsVLNNFIE	223.81	34348593
TET2	Q6N021	Acetylation	110	K110-ac	LSGLLQIkkLKQDQK	223.81	63106402
TET2	Q6N021	Phosphorylation	1107	S1107-p	VLNNFIEsPsKLLDt	223.81	3202569
TET2	Q6N021	Phosphorylation	1109	S1109-p	NNFIEsPsKLLDtPI	223.81	20622138
TET2	Q6N021	Acetylation	111	K111-ac	SGLLQIkkLKQDQKA	223.81	63106403
TET2	Q6N021	Phosphorylation	1114	T1114-p	sPsKLLDtPIkNLLD	223.81	20622134
TET2	Q6N021	Acetylation	1117	K1117-ac	KLLDtPIkNLLDtPV	223.81	63106401
TET2	Q6N021	Phosphorylation	1122	T1122-p	PIkNLLDtPVKTQYD	223.81	20622136
TET2	Q6N021	Ubiquitination	1299	K1299-ub	SMYYNGCkFARSKIP	223.81	38492200
TET2	Q6N021	Acetylation	1317	K1317-ac	KLLGDDPkEEEKLES	223.81	5895724
TET2	Q6N021	Phosphorylation	1331	T1331-p	SHLQNLStLMAPTYk	223.81	34669085
TET2	Q6N021	Ubiquitination	1338	K1338-ub	tLMAPTYkkLAPDAy	223.81	964549868
TET2	Q6N021	Ubiquitination	1339	K1339-ub	LMAPTYkkLAPDAyN	223.81	964549870
TET2	Q6N021	Acetylation	1339	K1339-ac	LMAPTYkkLAPDAyN	223.81	5895729
TET2	Q6N021	Phosphorylation	1345	Y1345-p	kkLAPDAyNNQIEYE	223.81	486475
TET2	Q6N021	Phosphorylation	1449	S1449-p	GAIQVLSsFRRKVRM	223.81	23152018
TET2	Q6N021	Phosphorylation	1463	T1463-p	MLAEPVKtCRQRKLE	223.81	23152033
TET2	Q6N021	Acetylation	1478	K1478-ac	AKKAAAEkLSsLENS	223.81	33364032
TET2	Q6N021	Phosphorylation	1481	S1481-p	AAAEkLSsLENSSNK	223.81	23152021

Showing 1 to 20 of 49 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Frameshift

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Whole Gene Deletion

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
TET2	ENST00000540549	2080308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82855229	c.3275del	p.P1092Qfs*14	Deletion - Frameshift			Variant of unknown origin	PMID: 24045501	secondary	1092
TET2	ENST00000540549	776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82844654	c.4249G>T	p.V1417F	Substitution - Missense	PATHOGENIC	.99306	Reported in another cancer sample as somatic	PMID: 30304655	NS	1417
TET2	ENST00000540549	AML_322	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82844716	c.3955-2A>G	p.?	Unknown	PATHOGENIC	.99182	Variant of unknown origin	PMID: 27288520	primary	0
TET2	ENST00000540549	AML_322	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82848554	c.1873del	p.T625Hfs*14	Deletion - Frameshift			Variant of unknown origin	PMID: 27288520	primary	625
TET2	ENST00000540549	08-0075-731-Post-transplant	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	82860738	c.4826del	p.L1609*	Deletion - Frameshift			Variant of unknown origin	PMID: 29386642	NS	1609
TET2	ENST00000540549	1657177	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82847983	c.1664dup	p.T556Nfs*11	Insertion - Frameshift			Variant of unknown origin	PMID: 22116554	NS	556
TET2	ENST00000540549	P-0005151-T01-IM5	large_intestine	carcinoma	82861721	c.3214G>A	p.A1072T	Substitution - Missense	PATHOGENIC	.85479	Confirmed somatic variant	PMID: 28481359	primary	1072
TET2	ENST00000540549	2108197	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82859201	c.323A>T	p.Q108L	Substitution - Missense	PATHOGENIC	.85783	Confirmed somatic variant	PMID: 24478400	NS	108
TET2	ENST00000540549	P116	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	82866662	c.2400_2401del	p.H800Qfs*15	Deletion - Frameshift			Variant of unknown origin	PMID: 32187361	NS	800
TET2	ENST00000540549	467	oesophagus	carcinoma	82860988	c.2141C>A	p.S714*	Substitution - Nonsense	PATHOGENIC	.82426	Confirmed somatic variant	PMID: 25151357	primary	714
TET2	ENST00000540549	TCGA-DH-5142-01	central_nervous_system	glioma	82860645	c.1735C>G	p.L579V	Substitution - Missense	NEUTRAL	.20924	Confirmed somatic variant	PMID: N/A	NS	579
TET2	ENST00000540549	TCGA-A3-3346-01	kidney	carcinoma	82850497	c.1660C>T	p.P554S	Substitution - Missense	NEUTRAL	.23537	Reported in another cancer sample as somatic	PMID: N/A	primary	554
TET2	ENST00000540549	TCGA-A3-3346-01	kidney	carcinoma	82859052	c.1800G>A	p.M600I	Substitution - Missense	NEUTRAL	.18048	Variant of unknown origin	PMID: N/A	primary	600
TET2	ENST00000540549	MDS12	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82847581	c.3764dup	p.Y1255*	Insertion - Frameshift			Confirmed somatic variant	PMID: 23831921	NS	1255
TET2	ENST00000540549	2590541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82841769	c.4546C>T	p.R1516*	Substitution - Nonsense	PATHOGENIC	.73976	Reported in another cancer sample as somatic	PMID: 25412851	NS	1516
TET2	ENST00000540549	1799695	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82841435	c.1648C>T	p.R550*	Substitution - Nonsense	NEUTRAL	.15032	Reported in another cancer sample as somatic	PMID: 23074272	NS	550
TET2	ENST00000540549	2878995	upper_aerodigestive_tract	carcinoma	82866337	c.918del	p.K306Nfs*2	Deletion - Frameshift			Variant of unknown origin	PMID: 33115932	NS	306
TET2	ENST00000540549	PD10862a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82853140	c.1795C>T	p.Q599*	Substitution - Nonsense	NEUTRAL	.45356	Variant of unknown origin	PMID: 27276561	NS	599
TET2	ENST00000540549	2780661	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82843104	c.1945C>T	p.Q649*	Substitution - Nonsense	PATHOGENIC	.93125	Reported in another cancer sample as somatic	PMID: 26728869	NS	649
TET2	ENST00000540549	2780661	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	82842865	c.4354C>T	p.R1452*	Substitution - Nonsense	PATHOGENIC	.88268	Reported in another cancer sample as somatic	PMID: 26728869	NS	1452

Showing 1 to 20 of 5,249 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF12851	Tet_JBP	Oxygenase domain of the 2OGFeDO superfamily	1290-1905	CL0029	Cupin	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Primary Myelofibrosis	Hemic and Lymphatic Diseases ;	0.499	0.586
Refractory anemias	Hemic and Lymphatic Diseases ;	0.499	0.586
Refractory anaemia with excess blasts	Hemic and Lymphatic Diseases ;	0.499	0.586
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Cytopenia	N/A	0.499	0.586
Angioimmunoblastic Lymphadenopathy	Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.499	0.586
Leukemia, Myelomonocytic, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.499	0.586
Acute Promyelocytic Leukemia	Neoplasms ;	0.499	0.586
Myelofibrosis	N/A	0.499	0.586
Neoplasm Recurrence, Local	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.499	0.586
Polycythemia Vera	Neoplasms ; Hemic and Lymphatic Diseases ;	0.499	0.586
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.499	0.586
Sezary Syndrome	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Thrombocythemia, Essential	Hemic and Lymphatic Diseases ;	0.499	0.586
Peripheral T-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.499	0.586
Congenital anemia	N/A	0.499	0.586
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
secondary acute myeloid leukemia	N/A	0.499	0.586
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.499	0.586
Refractory anemia with ringed sideroblasts	N/A	0.499	0.586
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Acute myeloid leukemia with multilineage dysplasia	N/A	0.499	0.586
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.499	0.586
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.499	0.586
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.499	0.586
NO RESULT FOUND

Description:	tet methylcytosine dioxygenase 2 [Source:MGI Symbol;Acc:MGI:2443298]
Synonyms:	Ayu17-449, mKIAA1546, E130014J05Rik
Other ID(s):	ENSMUSG00000040943, MGI:2443298
Protein Accession Numbers:	NP_001333665, XP_011238370, XP_006501346, NP_001035490, XP_006501350, XP_006501344, XP_036018905, XP_006501349
Statistics:	ClinVar(65) gnomAD(3842) COSMIC(5249) PTM(49)

Classification of Clinicial Significance of ClinVar Data