Canonical Allele Identifier: CA1949575378

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253309C= , CM000673.2:g.5253309C=	GRCh38
NC_000011.9:g.5274539C= , CM000673.1:g.5274539C=	GRCh37
NC_000011.8:g.5231115C=	NCBI36
NG_000007.3:g.44307G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.412G= MANE Select	ENSP00000338082.4:p.Val138=
ENST00000380252.6:c.247G=	ENSP00000369602.2:p.Val83=
ENST00000642908.1:c.315+983G=	ENSP00000495346.1:n.315+983G=
ENST00000647543.1:c.378+34G=	ENSP00000496470.1:n.378+34G=
ENST00000336906.4:c.412G=	ENSP00000338082.4:p.Val138=
ENST00000380252.5:c.382G=	ENSP00000369602.1:p.Val128=
ENST00000380259.6:c.412G=	ENSP00000369609.2:p.Val138=
ENST00000620888.4:c.315+983G=	ENSP00000479637.1:n.315+983G=
NM_000184.2:c.412G=	NP_000175.1:p.Val138=
NM_000184.3:c.412G= MANE Select	NP_000175.1:p.Val138=