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 Acceptor Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
9-5021987-CATGGGAATGGCCTGCCTTACG-C	ENST00000381652	p.Gly2_Met8del	Start Lost	0	0	0	rs1219951692
9-5021987-CATGGGAATGGCCTGCCTTACG-C	ENST00000539801	p.Gly2_Met8del	Start Lost	0	0	0	rs1219951692
9-5021988-A-G	ENST00000381652	p.Met1?	Start Lost	0	0	0	rs1283187112
9-5021988-A-G	ENST00000539801	p.Met1?	Start Lost	0	0	0	rs1283187112
9-5021991-G-A	ENST00000381652	p.Gly2Arg	Missense Variant	0	0	0	rs772421530
9-5021991-G-A	ENST00000539801	p.Gly2Arg	Missense Variant	0	0	0	rs772421530
9-5021993-A-C	ENST00000381652	p.Gly2Gly	Synonymous Variant	1	31402	0.000032	rs1311151192
9-5021993-A-C	ENST00000539801	p.Gly2Gly	Synonymous Variant	1	31402	0.000032	rs1311151192
9-5021998-C-A	ENST00000381652	p.Ala4Asp	Missense Variant	0	0	0	rs773675185
9-5021998-C-A	ENST00000539801	p.Ala4Asp	Missense Variant	0	0	0	rs773675185
9-5021999-C-T	ENST00000381652	p.Ala4Ala	Synonymous Variant	0	0	0	rs760970893
9-5021999-C-T	ENST00000539801	p.Ala4Ala	Synonymous Variant	0	0	0	rs760970893
9-5022007-C-T	ENST00000381652	p.Thr7Met	Missense Variant	0	0	0	rs770579392
9-5022007-C-T	ENST00000539801	p.Thr7Met	Missense Variant	0	0	0	rs770579392
9-5022008-G-A	ENST00000381652	p.Thr7Thr	Synonymous Variant	0	0	0	rs776155206
9-5022008-G-A	ENST00000539801	p.Thr7Thr	Synonymous Variant	0	0	0	rs776155206
9-5022025-G-T	ENST00000381652	p.Gly13Val	Missense Variant	0	0	0	rs759031245
9-5022025-G-T	ENST00000539801	p.Gly13Val	Missense Variant	0	0	0	rs759031245
9-5022028-C-T	ENST00000381652	p.Thr14Ile	Missense Variant	0	0	0	rs764901971
9-5022028-C-T	ENST00000539801	p.Thr14Ile	Missense Variant	0	0	0	rs764901971

Showing 1 to 20 of 1,768 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
JAK2	O60674	Phosphorylation	1007	Y1007-p	VLPQDKEyyKVkEPG	130.67	448407
JAK2	O60674	Phosphorylation	1008	Y1008-p	LPQDKEyyKVkEPGE	130.67	448408
JAK2	O60674	Ubiquitination	1011	K1011-ub	DKEyyKVkEPGESPI	130.67	964521722
JAK2	O60674	Sumoylation	1011	K1011-sm	DKEyyKVkEPGESPI	130.67	31899105
JAK2	O60674	Acetylation	1069	K1069-ac	MRMIGNDkQGQMIVF	130.67	9908621
JAK2	O60674	Phosphorylation	119	Y119-p	VLYRIRFyFPRWYCS	130.67	470132
JAK2	O60674	Sumoylation	167	K167-sm	DFVHGWIkVPVTHET	130.67	31899102
JAK2	O60674	Phosphorylation	201	Y201-p	DQTPLAIyNSISYkT	130.67	470070
JAK2	O60674	Ubiquitination	207	K207-ub	IyNSISYkTFLPkCI	130.67	15391002
JAK2	O60674	Ubiquitination	212	K212-ub	SYkTFLPkCIRAKIQ	130.67	63727026
JAK2	O60674	Phosphorylation	221	Y221-p	IRAKIQDyHILTRKR	130.67	451493
JAK2	O60674	Ubiquitination	244	K244-ub	IQQFSQCkATARNLK	130.67	27195009
JAK2	O60674	Ubiquitination	269	K269-ub	QSAFYTEkFEVKEPG	130.67	964521724
JAK2	O60674	Phosphorylation	358	S358-p	NLEIELSsLREALSF	130.67	40556851
JAK2	O60674	Phosphorylation	382	Y382-p	LTADAHHyLCKEVAP	130.67	463563
JAK2	O60674	Phosphorylation	423	Y423-p	AGNQTGLyVLRCSPK	130.67	463564
JAK2	O60674	Phosphorylation	435	Y435-p	SPKDFNKyFLTFAVE	130.67	463565
JAK2	O60674	Phosphorylation	522	T522-p	NGVSDVPtsPTLQRP	130.67	23116815
JAK2	O60674	Phosphorylation	523	S523-p	GVSDVPtsPTLQRPT	130.67	465671
JAK2	O60674	Phosphorylation	570	Y570-p	VRREVGDyGQLHETE	130.67	451494

Showing 1 to 20 of 42 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Compound Substitution

Complex - Deletion Inframe

Complex - Insertion Inframe

Deletion - Frameshift

Deletion - In Frame

Frameshift

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

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

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
PF00017	SH2	SH2 domain	400-481	CL0541	SH2-like	Homo sapiens
PF17887	Jak1_Phl	Jak1 pleckstrin homology-like domain	299-381	CL0266	PH	Homo sapiens
PF18377	FERM_F2	FERM F2 acyl-CoA binding protein-like domain	142-261	CL0632	FERM_M	Homo sapiens
PF18379	FERM_F1	FERM F1 ubiquitin-like domain	39-134	CL0632	FERM_M	Homo sapiens
PF07714	PK_Tyr_Ser-Thr	Protein tyrosine and serine/threonine kinase	849-1123	CL0016	PKinase	Homo sapiens
PF07714	PK_Tyr_Ser-Thr	Protein tyrosine and serine/threonine kinase	545-805	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Spontaneous abortion	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Abortion, Tubal	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Primary Myelofibrosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Calcinosis	Nutritional and Metabolic Diseases ;	0.43	0.69
Uterine Cervical Neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Ulcerative Colitis	Digestive System Diseases ;	0.43	0.69
Cytopenia	N/A	0.43	0.69
Heart valve disease	Cardiovascular Diseases ;	0.43	0.69
Hepatic Vein Thrombosis	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Hepatoma, Morris	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Hepatoma, Novikoff	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Inflammation	Pathological Conditions, Signs and Symptoms ;	0.43	0.69
leukemia	Neoplasms ;	0.43	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.43	0.69
Myeloid Leukemia, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.43	0.69
Liver Neoplasms, Experimental	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Mesenteric Vascular Occlusion	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Myelofibrosis	N/A	0.43	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.43	0.69
Myeloproliferative disease	Hemic and Lymphatic Diseases ;	0.43	0.69
Polycythemia	Hemic and Lymphatic Diseases ;	0.43	0.69
Polycythemia Vera	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Pregnancy Complications	Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.43	0.69
Thrombocythemia, Essential	Hemic and Lymphatic Diseases ;	0.43	0.69
Thromboembolism	Cardiovascular Diseases ;	0.43	0.69
Venous Thrombosis	Cardiovascular Diseases ;	0.43	0.69
Diffuse Large B-Cell Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.43	0.69
Experimental Hepatoma	Neoplasms ; Digestive System Diseases ;	0.43	0.69
Deep Vein Thrombosis	Cardiovascular Diseases ;	0.43	0.69
Myocardial Ischemia	Cardiovascular Diseases ;	0.43	0.69
Familial erythrocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Congenital anemia	N/A	0.43	0.69
Tumoral calcinosis	Nutritional and Metabolic Diseases ;	0.43	0.69
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.43	0.69
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.43	0.69
Non-alcoholic Fatty Liver Disease	Digestive System Diseases ;	0.43	0.69
Microcalcification	Nutritional and Metabolic Diseases ;	0.43	0.69
Thrombocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Budd-Chiari Syndrome	Digestive System Diseases ; Cardiovascular Diseases ;	0.43	0.69
Adult Diffuse Large B-Cell Lymphoma	N/A	0.43	0.69
Childhood Diffuse Large B-Cell Lymphoma	N/A	0.43	0.69
Ovarian Serous Adenocarcinoma	N/A	0.43	0.69
Erythrocytosis	Hemic and Lymphatic Diseases ;	0.43	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.43	0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.43	0.69
Nonalcoholic Steatohepatitis	Digestive System Diseases ;	0.43	0.69
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO	N/A	0.43	0.69
THROMBOCYTHEMIA 3	N/A	0.43	0.69
Thrombocytosis, Autosomal Dominant	Hemic and Lymphatic Diseases ;	0.43	0.69
cervical cancer	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.43	0.69
Familial thrombocytosis	N/A	0.43	0.69
NO RESULT FOUND

Description:	Janus kinase 2b [Source:ZFIN;Acc:ZDB-GENE-980526-123]
Synonyms:	jak2, JAK2bCA
Other ID(s):	ZDB-GENE-980526-123, ENSDARG00000018882
Protein Accession Numbers:	XP_017211527, NP_571162
Statistics:	ClinVar(224) gnomAD(1768) COSMIC(44742) PTM(42)

Classification of Clinicial Significance of ClinVar Data