Canonical Allele Identifier: CA124183
Gene: JAK2 HGNC NCBI
INSL6 HGNC NCBI

Linked Data

ClinVar Variation Id: 14662
ClinVar RCV Id: RCV000015769 RCV000015770 RCV000015771 RCV000015772 RCV000022627 RCV000022628 RCV000420273 RCV000427081 RCV000428162 RCV000763621 RCV001003803 RCV001003804 RCV001092995
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
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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)
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