Canonical Allele Identifier: CA1829665138

Gene: JAK2 INSL6

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5081780G= , CM000671.2:g.5081780G=	GRCh38
NC_000009.11:g.5081780G= , CM000671.1:g.5081780G=	GRCh37
NC_000009.10:g.5071780G=	NCBI36
NG_009904.1:g.101536G= , LRG_612:g.101536G=
NG_046969.1:g.108931C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000381652.4:c.2490G= (JAK2) MANE Select	ENSP00000371067.4:p.Leu830=
ENST00000381652.3:c.2490G= (JAK2)	ENSP00000371067.3:p.Leu830=
NM_004972.3:c.2490G= , LRG_612t1:c.2490G= (JAK2)	NP_004963.1:p.Leu830=
XM_011517701.1:c.377-66436C= (INSL6)	XP_011516003.1:n.377-66436C=
XM_011517702.1:c.376+82399C= (INSL6)	XP_011516004.1:n.376+82399C=
XR_929169.1:n.485-66436C= (INSL6)
NM_001322194.1:c.2490G= (JAK2)	NP_001309123.1:p.Leu830=
NM_001322195.1:c.2490G= (JAK2)	NP_001309124.1:p.Leu830=
NM_001322196.1:c.2490G= (JAK2)	NP_001309125.1:p.Leu830=
NM_001322198.1:c.1275G= (JAK2)	NP_001309127.1:p.Leu425=
NM_001322199.1:c.1275G= (JAK2)	NP_001309128.1:p.Leu425=
NM_001322204.1:c.2043G= (JAK2)	NP_001309133.1:p.Leu681=
XM_011517702.3:c.376+82399C= (INSL6)	XP_011516004.1:n.376+82399C=
NM_004972.4:c.2490G= (JAK2) MANE Select	NP_004963.1:p.Leu830=
NM_001322194.2:c.2490G= (JAK2)	NP_001309123.1:p.Leu830=
NM_001322195.2:c.2490G= (JAK2)	NP_001309124.1:p.Leu830=
NM_001322196.2:c.2490G= (JAK2)	NP_001309125.1:p.Leu830=
NM_001322198.2:c.1275G= (JAK2)	NP_001309127.1:p.Leu425=
NM_001322199.2:c.1275G= (JAK2)	NP_001309128.1:p.Leu425=
NM_001322204.2:c.2043G= (JAK2)	NP_001309133.1:p.Leu681=
NR_169763.1:n.2974G= (JAK2)
NR_169764.1:n.2891G= (JAK2)