Canonical Allele Identifier: CA124183

Gene: JAK2 INSL6

Linked Data

• ClinVar Variation Id: 14662
• ClinVar RCV Id: RCV000015769 ; RCV000015770 ; RCV000015771 ; RCV000015772 ; RCV000022627 ; RCV000022628 ; RCV000428162 ; RCV000420273 ; RCV001003804 ; RCV000427081 ; RCV001092995 ; RCV000763621 ; RCV001003803
• dbSNP Id: rs77375493
• ExAC: 9:5073770 G / T
• gnomAD v2: 9-5073770-G-T
• gnomAD v3: 9-5073770-G-T
• gnomAD v4: 9-5073770-G-T
• COSMIC: COSM12600
• MyVariant Identifiers: chr9:g.5073770G>T (hg19) ; chr9:g.5073770G>T (hg38)
• CIViC: CA124183
• PubMed: PMID:15781101 ; PMID:16081687 ; PMID:16709929 ; PMID:16762626 ; PMID:18394554 ; PMID:19287384 ; PMID:19293426 ; PMID:20339092 ; PMID:20631743 ; PMID:21120162 ; PMID:21689158 ; PMID:22041374 ; PMID:22422826 ; PMID:22571758 ; PMID:22818858 ; PMID:22829971 ; PMID:23115274 ; PMID:23425079 ; PMID:24404189 ; PMID:24986690 ; PMID:25157968 ; PMID:25698270

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5073770G>T , CM000671.2:g.5073770G>T	GRCh38
NC_000009.11:g.5073770G>T , CM000671.1:g.5073770G>T	GRCh37
NC_000009.10:g.5063770G>T	NCBI36
NG_009904.1:g.93526G>T , LRG_612:g.93526G>T
NG_046969.1:g.116941C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.1849G>T (JAK2) MANE Select	ENSP00000371067.4:p.Val617Phe
ENST00000636127.1:c.1849G>T (JAK2)	ENSP00000489812.1:p.Val617Phe
ENST00000381652.3:c.1849G>T (JAK2)	ENSP00000371067.3:p.Val617Phe
NM_004972.3:c.1849G>T , LRG_612t1:c.1849G>T (JAK2)	NP_004963.1:p.Val617Phe
XM_011517701.1:c.377-58426C>A (INSL6)	XP_011516003.1:n.377-58426C>A
XM_011517702.1:c.377-81337C>A (INSL6)	XP_011516004.1:n.377-81337C>A
XR_929169.1:n.485-58426C>A (INSL6)
NM_001322194.1:c.1849G>T (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.1:c.1849G>T (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.1:c.1849G>T (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.1:c.634G>T (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.1:c.634G>T (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.1:c.1402G>T (JAK2)	NP_001309133.1:p.Val468Phe
XM_011517702.3:c.377-81337C>A (INSL6)	XP_011516004.1:n.377-81337C>A
NM_004972.4:c.1849G>T (JAK2) MANE Select	NP_004963.1:p.Val617Phe
NM_001322194.2:c.1849G>T (JAK2)	NP_001309123.1:p.Val617Phe
NM_001322195.2:c.1849G>T (JAK2)	NP_001309124.1:p.Val617Phe
NM_001322196.2:c.1849G>T (JAK2)	NP_001309125.1:p.Val617Phe
NM_001322198.2:c.634G>T (JAK2)	NP_001309127.1:p.Val212Phe
NM_001322199.2:c.634G>T (JAK2)	NP_001309128.1:p.Val212Phe
NM_001322204.2:c.1402G>T (JAK2)	NP_001309133.1:p.Val468Phe
NR_169763.1:n.2333G>T (JAK2)
NR_169764.1:n.2250G>T (JAK2)