Canonical Allele Identifier: CA16603117

Gene: JAK2 INSL6

Linked Data

• ClinVar Variation Id: 376705
• ClinVar RCV Id: RCV000435377
• dbSNP Id: rs1057520016
• gnomAD v4: 9-5089726-C-A
• COSMIC: COSM23940
• MyVariant Identifiers: chr9:g.5089726C>A (hg19) ; chr9:g.5089726C>A (hg38)
• PubMed: PMID:20585391

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5089726C>A , CM000671.2:g.5089726C>A	GRCh38
NC_000009.11:g.5089726C>A , CM000671.1:g.5089726C>A	GRCh37
NC_000009.10:g.5079726C>A	NCBI36
NG_009904.1:g.109482C>A , LRG_612:g.109482C>A
NG_046969.1:g.100985G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2624C>A (JAK2) MANE Select	ENSP00000371067.4:p.Thr875Asn
ENST00000381652.3:c.2624C>A (JAK2)	ENSP00000371067.3:p.Thr875Asn
NM_004972.3:c.2624C>A , LRG_612t1:c.2624C>A (JAK2)	NP_004963.1:p.Thr875Asn
XM_011517701.1:c.377-74382G>T (INSL6)	XP_011516003.1:n.377-74382G>T
XM_011517702.1:c.376+74453G>T (INSL6)	XP_011516004.1:n.376+74453G>T
XR_929169.1:n.485-74382G>T (INSL6)
NM_001322194.1:c.2624C>A (JAK2)	NP_001309123.1:p.Thr875Asn
NM_001322195.1:c.2624C>A (JAK2)	NP_001309124.1:p.Thr875Asn
NM_001322196.1:c.2624C>A (JAK2)	NP_001309125.1:p.Thr875Asn
NM_001322198.1:c.1409C>A (JAK2)	NP_001309127.1:p.Thr470Asn
NM_001322199.1:c.1409C>A (JAK2)	NP_001309128.1:p.Thr470Asn
NM_001322204.1:c.2177C>A (JAK2)	NP_001309133.1:p.Thr726Asn
XM_011517702.3:c.376+74453G>T (INSL6)	XP_011516004.1:n.376+74453G>T
NM_004972.4:c.2624C>A (JAK2) MANE Select	NP_004963.1:p.Thr875Asn
NM_001322194.2:c.2624C>A (JAK2)	NP_001309123.1:p.Thr875Asn
NM_001322195.2:c.2624C>A (JAK2)	NP_001309124.1:p.Thr875Asn
NM_001322196.2:c.2624C>A (JAK2)	NP_001309125.1:p.Thr875Asn
NM_001322198.2:c.1409C>A (JAK2)	NP_001309127.1:p.Thr470Asn
NM_001322199.2:c.1409C>A (JAK2)	NP_001309128.1:p.Thr470Asn
NM_001322204.2:c.2177C>A (JAK2)	NP_001309133.1:p.Thr726Asn
NR_169763.1:n.3108C>A (JAK2)
NR_169764.1:n.3025C>A (JAK2)