Canonical Allele Identifier: CA1829665219

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081830G= , CM000671.2:g.5081830G=	GRCh38
NC_000009.11:g.5081830G= , CM000671.1:g.5081830G=	GRCh37
NC_000009.10:g.5071830G=	NCBI36
NG_009904.1:g.101586G= , LRG_612:g.101586G=
NG_046969.1:g.108881C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381652.4:c.2540G= (JAK2) MANE Select	ENSP00000371067.4:p.Arg847=
ENST00000381652.3:c.2540G= (JAK2)	ENSP00000371067.3:p.Arg847=
NM_004972.3:c.2540G= , LRG_612t1:c.2540G= (JAK2)	NP_004963.1:p.Arg847=
XM_011517701.1:c.377-66486C= (INSL6)	XP_011516003.1:n.377-66486C=
XM_011517702.1:c.376+82349C= (INSL6)	XP_011516004.1:n.376+82349C=
XR_929169.1:n.485-66486C= (INSL6)
NM_001322194.1:c.2540G= (JAK2)	NP_001309123.1:p.Arg847=
NM_001322195.1:c.2540G= (JAK2)	NP_001309124.1:p.Arg847=
NM_001322196.1:c.2540G= (JAK2)	NP_001309125.1:p.Arg847=
NM_001322198.1:c.1325G= (JAK2)	NP_001309127.1:p.Arg442=
NM_001322199.1:c.1325G= (JAK2)	NP_001309128.1:p.Arg442=
NM_001322204.1:c.2093G= (JAK2)	NP_001309133.1:p.Arg698=
XM_011517702.3:c.376+82349C= (INSL6)	XP_011516004.1:n.376+82349C=
NM_004972.4:c.2540G= (JAK2) MANE Select	NP_004963.1:p.Arg847=
NM_001322194.2:c.2540G= (JAK2)	NP_001309123.1:p.Arg847=
NM_001322195.2:c.2540G= (JAK2)	NP_001309124.1:p.Arg847=
NM_001322196.2:c.2540G= (JAK2)	NP_001309125.1:p.Arg847=
NM_001322198.2:c.1325G= (JAK2)	NP_001309127.1:p.Arg442=
NM_001322199.2:c.1325G= (JAK2)	NP_001309128.1:p.Arg442=
NM_001322204.2:c.2093G= (JAK2)	NP_001309133.1:p.Arg698=
NR_169763.1:n.3024G= (JAK2)
NR_169764.1:n.2941G= (JAK2)