ConVarT

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 Region Variant

Start Lost

Stop Gained

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
2-25964898-T-C	ENST00000435504	p.Ter1436Ter	Stop Retained Variant	1	31408	0.000032	rs1463887894		RF
2-25964902-C-CGACATTACT	ENST00000435504	p.Val1434_Arg1435insGlnTerCys	Stop Gained	0	0	0	rs542810776	lc_lof
2-25964902-C-T	ENST00000435504	p.Arg1435Gln	Missense Variant	0	0	0	rs542810776
2-25964903-G-A	ENST00000435504	p.Arg1435Trp	Missense Variant	0	0	0	rs561088610
2-25964903-G-C	ENST00000435504	p.Arg1435Gly	Missense Variant	0	0	0	rs561088610
2-25964903-G-T	ENST00000435504	p.Arg1435Arg	Synonymous Variant	0	0	0	rs561088610
2-25964906-C-T	ENST00000435504	p.Val1434Ile	Missense Variant	0	0	0	rs1401310124
2-25964907-G-A	ENST00000435504	p.Val1433Val	Synonymous Variant	0	0	0	rs371044436
2-25964922-G-A	ENST00000435504	p.Cys1428Cys	Synonymous Variant	2	31398	0.000064	rs757588385
2-25964922-GCA-G	ENST00000435504	p.Cys1428ArgfsTer17	Frameshift Variant	2	31398	0.000064	rs757588385	lc_lof
2-25964927-G-A	ENST00000435504	p.Leu1427Leu	Synonymous Variant	0	0	0	rs765699534
2-25964933-A-T	ENST00000435504	p.Ser1425Thr	Missense Variant	0	0	0	rs1295542751
2-25964939-C-T	ENST00000435504	p.Gly1423Ser	Missense Variant	0	0	0	rs750031170
2-25964940-G-A	ENST00000435504	p.Ile1422Ile	Synonymous Variant	0	0	0	rs758086432
2-25964952-A-G	ENST00000435504	p.His1418His	Synonymous Variant	1	31402	0.000032	rs375594175
2-25964953-T-C	ENST00000435504	p.His1418Arg	Missense Variant	0	0	0	rs779368997
2-25964961-A-T	ENST00000435504	p.Ala1415Ala	Synonymous Variant	0	0	0	rs746550801
2-25964963-C-T	ENST00000435504	p.Ala1415Thr	Missense Variant	0	0	0	rs368569134
2-25964964-G-A	ENST00000435504	p.Gly1414Gly	Synonymous Variant	0	0	0	rs372692351
2-25964982-G-T	ENST00000435504	p.Ile1408Ile	Synonymous Variant	0	0	0	rs773069400

Showing 1 to 20 of 1,051 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ASXL2	Q76L83	Phosphorylation	1002	S1002-p	AtNTTENstREEVNE	153.82	5829726
ASXL2	Q76L83	Phosphorylation	1003	T1003-p	tNTTENstREEVNER	153.82	5829730
ASXL2	Q76L83	Phosphorylation	1054	Y1054-p	SSIDTHQyHEGLsKA	153.82	25283572
ASXL2	Q76L83	Phosphorylation	1059	S1059-p	HQyHEGLsKATQDQI	153.82	25283578
ASXL2	Q76L83	Phosphorylation	1141	T1141-p	GSESFRRtHsVNPED	153.82	56661736
ASXL2	Q76L83	Phosphorylation	1143	S1143-p	ESFRRtHsVNPEDRF	153.82	27444286
ASXL2	Q76L83	Phosphorylation	1154	S1154-p	EDRFCLSsPTEALKM	153.82	27444278
ASXL2	Q76L83	Phosphorylation	1164	T1164-p	EALKMGYtDCKNATG	153.82	34368769
ASXL2	Q76L83	Phosphorylation	1173	S1173-p	CKNATGEsssSKEDD	153.82	34360334
ASXL2	Q76L83	Phosphorylation	1174	S1174-p	KNATGEsssSKEDDt	153.82	34382203
ASXL2	Q76L83	Phosphorylation	1175	S1175-p	NATGEsssSKEDDtD	153.82	4755350
ASXL2	Q76L83	Phosphorylation	1181	T1181-p	ssSKEDDtDEESTGD	153.82	4755362
ASXL2	Q76L83	Sumoylation	1232	K1232-sm	CLASKNVkAEIPLNE	153.82	55427691
ASXL2	Q76L83	Ubiquitination	1245	K1245-ub	NEQTTLSkENYLFTR	153.82	21129440
ASXL2	Q76L83	Phosphorylation	1255	T1255-p	YLFTRGQtFDEktLA	153.82	56661740
ASXL2	Q76L83	Ubiquitination	1259	K1259-ub	RGQtFDEktLARDLI	153.82	41482415
ASXL2	Q76L83	Sumoylation	1259	K1259-sm	RGQtFDEktLARDLI	153.82	55427695
ASXL2	Q76L83	Phosphorylation	1260	T1260-p	GQtFDEktLARDLIQ	153.82	23084404
ASXL2	Q76L83	Ubiquitination	1271	K1271-ub	DLIQAAQkQMAHAVR	153.82	573774026
ASXL2	Q76L83	Phosphorylation	1284	S1284-p	VRGKAIRsSPELFSS	153.82	14159368

Showing 1 to 20 of 70 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
ASXL2	ENST00000435504	TCGA-77-8150-01	lung	carcinoma	54084531	c.2217T>A	p.G739=	Substitution - coding silent	PATHOGENIC	.91352	Confirmed somatic variant	PMID: N/A	NS	739
ASXL2	ENST00000435504	TCGA-DA-A1HY-06	skin	malignant_melanoma	54091909	c.3635C>T	p.S1212L	Substitution - Missense	NEUTRAL	.3028	Confirmed somatic variant	PMID: N/A	NS	1212
ASXL2	ENST00000435504	P-0002166-T01-IM3	urinary_tract	carcinoma	54091576	c.1509G>C	p.K503N	Substitution - Missense	PATHOGENIC	.82312	Confirmed somatic variant	PMID: 28481359	primary	503
ASXL2	ENST00000435504	8057490	pancreas	carcinoma	54093231	c.144-7700C>T	p.?	Unknown	NEUTRAL	.0014	Confirmed somatic variant	PMID: N/A	NS	0
ASXL2	ENST00000435504	8057490	pancreas	carcinoma	54093237	c.143+13759C>T	p.?	Unknown	NEUTRAL	.00113	Confirmed somatic variant	PMID: N/A	NS	0
ASXL2	ENST00000435504	TCGA-GF-A2C7-01	skin	malignant_melanoma	54088032	c.3971G>T	p.G1324V	Substitution - Missense	PATHOGENIC	.95832	Confirmed somatic variant	PMID: N/A	NS	1324
ASXL2	ENST00000435504	TCGA-56-8625-01	lung	carcinoma	54086490	c.345C>T	p.S115=	Substitution - coding silent	PATHOGENIC	.95731	Confirmed somatic variant	PMID: N/A	NS	115
ASXL2	ENST00000435504	TCGA-G2-AA3B-01	urinary_tract	carcinoma	54089935	c.787A>G	p.R263G	Substitution - Missense	PATHOGENIC	.78821	Confirmed somatic variant	PMID: N/A	primary	263
ASXL2	ENST00000435504	EV006-LN1a	kidney	carcinoma	54081167	c.94A>T	p.K32*	Substitution - Nonsense	PATHOGENIC	.97613	Confirmed somatic variant	PMID: 24487277	metastasis	32
ASXL2	ENST00000435504	P255	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	54093732	c.502C>T	p.Q168*	Substitution - Nonsense	PATHOGENIC	.96749	Variant of unknown origin	PMID: 32187361	primary	168
ASXL2	ENST00000435504	P-0005823-T01-IM5	large_intestine	carcinoma	54086277	c.155_157del	p.P52del	Deletion - In frame			Confirmed somatic variant	PMID: 28481359	metastasis	52
ASXL2	ENST00000435504	BD54T	biliary_tract	carcinoma	54083585	c.5G>C	p.R2T	Substitution - Missense	PATHOGENIC	.88881	Confirmed somatic variant	PMID: N/A	primary	2
ASXL2	ENST00000435504	T_CCA_TH_12	biliary_tract	carcinoma	54083593	c.143+14143del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ASXL2	ENST00000435504	RK054_C01	liver	carcinoma	54081846	c.58-2686A>G	p.?	Unknown	NEUTRAL	.01574	Variant of unknown origin	PMID: N/A	primary	0
ASXL2	ENST00000435504	T_CCA_TH_12	biliary_tract	carcinoma	54083706	c.1142+562dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ASXL2	ENST00000435504	HCA7	large_intestine	carcinoma	54082600	c.1640A>G	p.Q547R	Substitution - Missense	PATHOGENIC	.8977	Variant of unknown origin	PMID: 24755471	NS	547
ASXL2	ENST00000435504	EV006-R15	kidney	carcinoma	54081167	c.94A>T	p.K32*	Substitution - Nonsense	PATHOGENIC	.97613	Confirmed somatic variant	PMID: 24487277	primary	32
ASXL2	ENST00000435504	5-VS018-T1	skin	carcinoma	54087664	c.1411A>T	p.T471S	Substitution - Missense	NEUTRAL	.3344	Confirmed somatic variant	PMID: 26950094	NS	471
ASXL2	ENST00000435504	P-0001628-T01-IM3	NS	carcinoma	54084662	c.2026G>T	p.A676S	Substitution - Missense	PATHOGENIC	.98868	Confirmed somatic variant	PMID: 28481359	metastasis	676
ASXL2	ENST00000435504	LP6007414-DNA_A02	oesophagus	carcinoma	54085626	c.940-363T>C	p.?	Unknown	NEUTRAL	.04086	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 757 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
PF05066	HARE-HTH	HB1, ASXL, restriction endonuclease HTH domain	11-83	CL0123	HTH	Homo sapiens
PF13919	ASXH	Asx homology domain	256-380			Homo sapiens
PF13922	PHD_3	PHD domain of transcriptional enhancer, Asx	1373-1433			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.72	0.379
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.72	0.379
Hydrocephalus	Nervous System Diseases ;	0.72	0.379
Leukemia, Myelocytic, Acute	Neoplasms ;	0.72	0.379
Acute Myeloid Leukemia, M1	Neoplasms ;	0.72	0.379
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.72	0.379
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.72	0.379
NO RESULT FOUND

Description:	additional sex combs like 2, transcriptional regulator [Source:MGI Symbol;Acc:MGI:1922552]
Synonyms:	4930556B16Rik, mKIAA1685
Other ID(s):	MGI:1922552, ENSMUSG00000037486
Protein Accession Numbers:	XP_006515302, XP_030102830, XP_036013536, XP_017170720, XP_036013533, XP_036013541, XP_006515305, XP_036013530, XP_036013538, NP_766009, XP_030102829, XP_036013535, XP_017170719, XP_036013532, XP_036013540, XP_006515304, XP_030102832, XP_036013537, NP_001257917, XP_017170721, XP_036013534, XP_036013542, XP_017170718, XP_036013531, XP_036013539
Statistics:	ClinVar(69) gnomAD(1051) COSMIC(757) PTM(70)

Classification of Clinicial Significance of ClinVar Data