Canonical Allele Identifier: CA372828635

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs1819718185
• gnomAD v3: 9-5081788-C-A
• gnomAD v4: 9-5081788-C-A
• MyVariant Identifiers: chr9:g.5081788C>A (hg19) ; chr9:g.5081788C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081788C>A , CM000671.2:g.5081788C>A	GRCh38
NC_000009.11:g.5081788C>A , CM000671.1:g.5081788C>A	GRCh37
NC_000009.10:g.5071788C>A	NCBI36
NG_009904.1:g.101544C>A , LRG_612:g.101544C>A
NG_046969.1:g.108923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2498C>A (JAK2) MANE Select	ENSP00000371067.4:p.Ser833Tyr
ENST00000381652.3:c.2498C>A (JAK2)	ENSP00000371067.3:p.Ser833Tyr
NM_004972.3:c.2498C>A , LRG_612t1:c.2498C>A (JAK2)	NP_004963.1:p.Ser833Tyr
XM_011517701.1:c.377-66444G>T (INSL6)	XP_011516003.1:n.377-66444G>T
XM_011517702.1:c.376+82391G>T (INSL6)	XP_011516004.1:n.376+82391G>T
XR_929169.1:n.485-66444G>T (INSL6)
NM_001322194.1:c.2498C>A (JAK2)	NP_001309123.1:p.Ser833Tyr
NM_001322195.1:c.2498C>A (JAK2)	NP_001309124.1:p.Ser833Tyr
NM_001322196.1:c.2498C>A (JAK2)	NP_001309125.1:p.Ser833Tyr
NM_001322198.1:c.1283C>A (JAK2)	NP_001309127.1:p.Ser428Tyr
NM_001322199.1:c.1283C>A (JAK2)	NP_001309128.1:p.Ser428Tyr
NM_001322204.1:c.2051C>A (JAK2)	NP_001309133.1:p.Ser684Tyr
XM_011517702.3:c.376+82391G>T (INSL6)	XP_011516004.1:n.376+82391G>T
NM_004972.4:c.2498C>A (JAK2) MANE Select	NP_004963.1:p.Ser833Tyr
NM_001322194.2:c.2498C>A (JAK2)	NP_001309123.1:p.Ser833Tyr
NM_001322195.2:c.2498C>A (JAK2)	NP_001309124.1:p.Ser833Tyr
NM_001322196.2:c.2498C>A (JAK2)	NP_001309125.1:p.Ser833Tyr
NM_001322198.2:c.1283C>A (JAK2)	NP_001309127.1:p.Ser428Tyr
NM_001322199.2:c.1283C>A (JAK2)	NP_001309128.1:p.Ser428Tyr
NM_001322204.2:c.2051C>A (JAK2)	NP_001309133.1:p.Ser684Tyr
NR_169763.1:n.2982C>A (JAK2)
NR_169764.1:n.2899C>A (JAK2)