Canonical Allele Identifier: CA372825485

Gene: JAK2 INSL6

Linked Data

• MyVariant Identifiers: chr9:g.5069930T>A (hg19) ; chr9:g.5069930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5069930T>A , CM000671.2:g.5069930T>A	GRCh38
NC_000009.11:g.5069930T>A , CM000671.1:g.5069930T>A	GRCh37
NC_000009.10:g.5059930T>A	NCBI36
NG_009904.1:g.89686T>A , LRG_612:g.89686T>A
NG_046969.1:g.120781A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.1519T>A (JAK2) MANE Select	ENSP00000371067.4:p.Ser507Thr
ENST00000636127.1:c.1519T>A (JAK2)	ENSP00000489812.1:p.Ser507Thr
ENST00000381652.3:c.1519T>A (JAK2)	ENSP00000371067.3:p.Ser507Thr
NM_004972.3:c.1519T>A , LRG_612t1:c.1519T>A (JAK2)	NP_004963.1:p.Ser507Thr
XM_011517701.1:c.377-54586A>T (INSL6)	XP_011516003.1:n.377-54586A>T
XM_011517702.1:c.377-77497A>T (INSL6)	XP_011516004.1:n.377-77497A>T
XR_929169.1:n.485-54586A>T (INSL6)
NM_001322194.1:c.1519T>A (JAK2)	NP_001309123.1:p.Ser507Thr
NM_001322195.1:c.1519T>A (JAK2)	NP_001309124.1:p.Ser507Thr
NM_001322196.1:c.1519T>A (JAK2)	NP_001309125.1:p.Ser507Thr
NM_001322198.1:c.304T>A (JAK2)	NP_001309127.1:p.Ser102Thr
NM_001322199.1:c.304T>A (JAK2)	NP_001309128.1:p.Ser102Thr
NM_001322204.1:c.1072T>A (JAK2)	NP_001309133.1:p.Ser358Thr
XM_011517702.3:c.377-77497A>T (INSL6)	XP_011516004.1:n.377-77497A>T
NM_004972.4:c.1519T>A (JAK2) MANE Select	NP_004963.1:p.Ser507Thr
NM_001322194.2:c.1519T>A (JAK2)	NP_001309123.1:p.Ser507Thr
NM_001322195.2:c.1519T>A (JAK2)	NP_001309124.1:p.Ser507Thr
NM_001322196.2:c.1519T>A (JAK2)	NP_001309125.1:p.Ser507Thr
NM_001322198.2:c.304T>A (JAK2)	NP_001309127.1:p.Ser102Thr
NM_001322199.2:c.304T>A (JAK2)	NP_001309128.1:p.Ser102Thr
NM_001322204.2:c.1072T>A (JAK2)	NP_001309133.1:p.Ser358Thr
NR_169763.1:n.2003T>A (JAK2)
NR_169764.1:n.1920T>A (JAK2)