Canonical Allele Identifier: CA372827164

Gene: JAK2 INSL6

Linked Data

• dbSNP Id: rs2130590592
• MyVariant Identifiers: chr9:g.5078366G>A (hg19) ; chr9:g.5078366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5078366G>A , CM000671.2:g.5078366G>A	GRCh38
NC_000009.11:g.5078366G>A , CM000671.1:g.5078366G>A	GRCh37
NC_000009.10:g.5068366G>A	NCBI36
NG_009904.1:g.98122G>A , LRG_612:g.98122G>A
NG_046969.1:g.112345C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2053G>A (JAK2) MANE Select	ENSP00000371067.4:p.Glu685Lys
ENST00000636127.1:c.2053G>A (JAK2)	ENSP00000489812.1:p.Glu685Lys
ENST00000381652.3:c.2053G>A (JAK2)	ENSP00000371067.3:p.Glu685Lys
NM_004972.3:c.2053G>A , LRG_612t1:c.2053G>A (JAK2)	NP_004963.1:p.Glu685Lys
XM_011517701.1:c.377-63022C>T (INSL6)	XP_011516003.1:n.377-63022C>T
XM_011517702.1:c.376+85813C>T (INSL6)	XP_011516004.1:n.376+85813C>T
XR_929169.1:n.485-63022C>T (INSL6)
NM_001322194.1:c.2053G>A (JAK2)	NP_001309123.1:p.Glu685Lys
NM_001322195.1:c.2053G>A (JAK2)	NP_001309124.1:p.Glu685Lys
NM_001322196.1:c.2053G>A (JAK2)	NP_001309125.1:p.Glu685Lys
NM_001322198.1:c.838G>A (JAK2)	NP_001309127.1:p.Glu280Lys
NM_001322199.1:c.838G>A (JAK2)	NP_001309128.1:p.Glu280Lys
NM_001322204.1:c.1606G>A (JAK2)	NP_001309133.1:p.Glu536Lys
XM_011517702.3:c.376+85813C>T (INSL6)	XP_011516004.1:n.376+85813C>T
NM_004972.4:c.2053G>A (JAK2) MANE Select	NP_004963.1:p.Glu685Lys
NM_001322194.2:c.2053G>A (JAK2)	NP_001309123.1:p.Glu685Lys
NM_001322195.2:c.2053G>A (JAK2)	NP_001309124.1:p.Glu685Lys
NM_001322196.2:c.2053G>A (JAK2)	NP_001309125.1:p.Glu685Lys
NM_001322198.2:c.838G>A (JAK2)	NP_001309127.1:p.Glu280Lys
NM_001322199.2:c.838G>A (JAK2)	NP_001309128.1:p.Glu280Lys
NM_001322204.2:c.1606G>A (JAK2)	NP_001309133.1:p.Glu536Lys
NR_169763.1:n.2537G>A (JAK2)
NR_169764.1:n.2454G>A (JAK2)