Canonical Allele Identifier: CA16602430
Gene: JAK2 HGNC NCBI
INSL6 HGNC NCBI

Linked Data

ClinVar Variation Id: 375951
ClinVar RCV Id: RCV000434785 RCV000443966
dbSNP Id: rs1057519721
COSMIC: COSM29300
MyVariant Identifiers: chr9:g.5078360A>G (hg19) chr9:g.5078360A>G (hg38)
PubMed: PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5078360A>G , CM000671.2:g.5078360A>G GRCh38
NC_000009.11:g.5078360A>G , CM000671.1:g.5078360A>G GRCh37
NC_000009.10:g.5068360A>G NCBI36
NG_009904.1:g.98116A>G , LRG_612:g.98116A>G
NG_046969.1:g.112351T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381652.4:c.2047A>G (JAK2) MANE Select ENSP00000371067.4:p.Arg683Gly
ENST00000636127.1:c.2047A>G (JAK2) ENSP00000489812.1:p.Arg683Gly
ENST00000381652.3:c.2047A>G (JAK2) ENSP00000371067.3:p.Arg683Gly
NM_004972.3:c.2047A>G , LRG_612t1:c.2047A>G (JAK2) NP_004963.1:p.Arg683Gly
XM_011517701.1:c.377-63016T>C (INSL6) XP_011516003.1:n.377-63016T>C
XM_011517702.1:c.376+85819T>C (INSL6) XP_011516004.1:n.376+85819T>C
XR_929169.1:n.485-63016T>C (INSL6)
NM_001322194.1:c.2047A>G (JAK2) NP_001309123.1:p.Arg683Gly
NM_001322195.1:c.2047A>G (JAK2) NP_001309124.1:p.Arg683Gly
NM_001322196.1:c.2047A>G (JAK2) NP_001309125.1:p.Arg683Gly
NM_001322198.1:c.832A>G (JAK2) NP_001309127.1:p.Arg278Gly
NM_001322199.1:c.832A>G (JAK2) NP_001309128.1:p.Arg278Gly
NM_001322204.1:c.1600A>G (JAK2) NP_001309133.1:p.Arg534Gly
XM_011517702.3:c.376+85819T>C (INSL6) XP_011516004.1:n.376+85819T>C
NM_004972.4:c.2047A>G (JAK2) MANE Select NP_004963.1:p.Arg683Gly
NM_001322194.2:c.2047A>G (JAK2) NP_001309123.1:p.Arg683Gly
NM_001322195.2:c.2047A>G (JAK2) NP_001309124.1:p.Arg683Gly
NM_001322196.2:c.2047A>G (JAK2) NP_001309125.1:p.Arg683Gly
NM_001322198.2:c.832A>G (JAK2) NP_001309127.1:p.Arg278Gly
NM_001322199.2:c.832A>G (JAK2) NP_001309128.1:p.Arg278Gly
NM_001322204.2:c.1600A>G (JAK2) NP_001309133.1:p.Arg534Gly
NR_169763.1:n.2531A>G (JAK2)
NR_169764.1:n.2448A>G (JAK2)
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Search 100 bp 3'