Canonical Allele Identifier: CA1829648991

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5069939C= , CM000671.2:g.5069939C=	GRCh38
NC_000009.11:g.5069939C= , CM000671.1:g.5069939C=	GRCh37
NC_000009.10:g.5059939C=	NCBI36
NG_009904.1:g.89695C= , LRG_612:g.89695C=
NG_046969.1:g.120772G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.1528C= (JAK2) MANE Select	ENSP00000371067.4:p.Leu510=
ENST00000636127.1:c.1528C= (JAK2)	ENSP00000489812.1:p.Leu510=
ENST00000381652.3:c.1528C= (JAK2)	ENSP00000371067.3:p.Leu510=
NM_004972.3:c.1528C= , LRG_612t1:c.1528C= (JAK2)	NP_004963.1:p.Leu510=
XM_011517701.1:c.377-54595G= (INSL6)	XP_011516003.1:n.377-54595G=
XM_011517702.1:c.377-77506G= (INSL6)	XP_011516004.1:n.377-77506G=
XR_929169.1:n.485-54595G= (INSL6)
NM_001322194.1:c.1528C= (JAK2)	NP_001309123.1:p.Leu510=
NM_001322195.1:c.1528C= (JAK2)	NP_001309124.1:p.Leu510=
NM_001322196.1:c.1528C= (JAK2)	NP_001309125.1:p.Leu510=
NM_001322198.1:c.313C= (JAK2)	NP_001309127.1:p.Leu105=
NM_001322199.1:c.313C= (JAK2)	NP_001309128.1:p.Leu105=
NM_001322204.1:c.1081C= (JAK2)	NP_001309133.1:p.Leu361=
XM_011517702.3:c.377-77506G= (INSL6)	XP_011516004.1:n.377-77506G=
NM_004972.4:c.1528C= (JAK2) MANE Select	NP_004963.1:p.Leu510=
NM_001322194.2:c.1528C= (JAK2)	NP_001309123.1:p.Leu510=
NM_001322195.2:c.1528C= (JAK2)	NP_001309124.1:p.Leu510=
NM_001322196.2:c.1528C= (JAK2)	NP_001309125.1:p.Leu510=
NM_001322198.2:c.313C= (JAK2)	NP_001309127.1:p.Leu105=
NM_001322199.2:c.313C= (JAK2)	NP_001309128.1:p.Leu105=
NM_001322204.2:c.1081C= (JAK2)	NP_001309133.1:p.Leu361=
NR_169763.1:n.2012C= (JAK2)
NR_169764.1:n.1929C= (JAK2)