Canonical Allele Identifier: CA1829651566

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5072798T= , CM000671.2:g.5072798T=	GRCh38
NC_000009.11:g.5072798T= , CM000671.1:g.5072798T=	GRCh37
NC_000009.10:g.5062798T=	NCBI36
NG_009904.1:g.92554T= , LRG_612:g.92554T=
NG_046969.1:g.117913A=

Transcript Alleles

HGVS	Amino-acid Change
NM_004972.4:c.1776+172T= (JAK2) MANE Select	NP_004963.1:n.1776+172T=
ENST00000381652.4:c.1776+172T= (JAK2) MANE Select	ENSP00000371067.4:n.1776+172T=
NM_001322194.1:c.1776+172T= (JAK2)	NP_001309123.1:n.1776+172T=
NM_001322194.2:c.1776+172T= (JAK2)	NP_001309123.1:n.1776+172T=
NM_001322195.1:c.1776+172T= (JAK2)	NP_001309124.1:n.1776+172T=
NM_001322195.2:c.1776+172T= (JAK2)	NP_001309124.1:n.1776+172T=
NM_001322196.1:c.1776+172T= (JAK2)	NP_001309125.1:n.1776+172T=
NM_001322196.2:c.1776+172T= (JAK2)	NP_001309125.1:n.1776+172T=
NM_001322198.1:c.561+172T= (JAK2)	NP_001309127.1:n.561+172T=
NM_001322198.2:c.561+172T= (JAK2)	NP_001309127.1:n.561+172T=
NM_001322199.1:c.561+172T= (JAK2)	NP_001309128.1:n.561+172T=
NM_001322199.2:c.561+172T= (JAK2)	NP_001309128.1:n.561+172T=
NM_001322204.1:c.1329+172T= (JAK2)	NP_001309133.1:n.1329+172T=
NM_001322204.2:c.1329+172T= (JAK2)	NP_001309133.1:n.1329+172T=
NM_004972.3:c.1776+172T= , LRG_612t1:c.1776+172T= (JAK2)	NP_004963.1:n.1776+172T=
NR_169763.1:n.2260+172T= (JAK2)
NR_169764.1:n.2177+172T= (JAK2)
ENST00000381652.3:c.1776+172T= (JAK2)	ENSP00000371067.3:n.1776+172T=
ENST00000636127.1:c.1776+172T= (JAK2)	ENSP00000489812.1:n.1776+172T=
XM_011517701.1:c.377-57454A= (INSL6)	XP_011516003.1:n.377-57454A=
XM_011517702.1:c.377-80365A= (INSL6)	XP_011516004.1:n.377-80365A=
XM_011517702.3:c.377-80365A= (INSL6)	XP_011516004.1:n.377-80365A=
XR_929169.1:n.485-57454A= (INSL6)