Canonical Allele Identifier: CA4971934

Gene: JAK2 INSL6

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5072541G>T , CM000671.2:g.5072541G>T	GRCh38
NC_000009.11:g.5072541G>T , CM000671.1:g.5072541G>T	GRCh37
NC_000009.10:g.5062541G>T	NCBI36
NG_009904.1:g.92297G>T , LRG_612:g.92297G>T
NG_046969.1:g.118170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.1691G>T (JAK2) MANE Select	ENSP00000371067.4:p.Arg564Leu
ENST00000636127.1:c.1691G>T (JAK2)	ENSP00000489812.1:p.Arg564Leu
ENST00000381652.3:c.1691G>T (JAK2)	ENSP00000371067.3:p.Arg564Leu
NM_004972.3:c.1691G>T , LRG_612t1:c.1691G>T (JAK2)	NP_004963.1:p.Arg564Leu
XM_011517701.1:c.377-57197C>A (INSL6)	XP_011516003.1:n.377-57197C>A
XM_011517702.1:c.377-80108C>A (INSL6)	XP_011516004.1:n.377-80108C>A
XR_929169.1:n.485-57197C>A (INSL6)
NM_001322194.1:c.1691G>T (JAK2)	NP_001309123.1:p.Arg564Leu
NM_001322195.1:c.1691G>T (JAK2)	NP_001309124.1:p.Arg564Leu
NM_001322196.1:c.1691G>T (JAK2)	NP_001309125.1:p.Arg564Leu
NM_001322198.1:c.476G>T (JAK2)	NP_001309127.1:p.Arg159Leu
NM_001322199.1:c.476G>T (JAK2)	NP_001309128.1:p.Arg159Leu
NM_001322204.1:c.1244G>T (JAK2)	NP_001309133.1:p.Arg415Leu
XM_011517702.3:c.377-80108C>A (INSL6)	XP_011516004.1:n.377-80108C>A
NM_004972.4:c.1691G>T (JAK2) MANE Select	NP_004963.1:p.Arg564Leu
NM_001322194.2:c.1691G>T (JAK2)	NP_001309123.1:p.Arg564Leu
NM_001322195.2:c.1691G>T (JAK2)	NP_001309124.1:p.Arg564Leu
NM_001322196.2:c.1691G>T (JAK2)	NP_001309125.1:p.Arg564Leu
NM_001322198.2:c.476G>T (JAK2)	NP_001309127.1:p.Arg159Leu
NM_001322199.2:c.476G>T (JAK2)	NP_001309128.1:p.Arg159Leu
NM_001322204.2:c.1244G>T (JAK2)	NP_001309133.1:p.Arg415Leu
NR_169763.1:n.2175G>T (JAK2)
NR_169764.1:n.2092G>T (JAK2)