Canonical Allele Identifier: CA124534

Gene: HBG2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253344T>G , CM000673.2:g.5253344T>G	GRCh38
NC_000011.9:g.5274574T>G , CM000673.1:g.5274574T>G	GRCh37
NC_000011.8:g.5231150T>G	NCBI36
NG_000007.3:g.44272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.377A>C MANE Select	ENSP00000338082.4:p.Glu126Ala
ENST00000380252.6:c.212A>C	ENSP00000369602.2:p.Glu71Ala
ENST00000642908.1:c.315+948A>C	ENSP00000495346.1:n.315+948A>C
ENST00000647543.1:c.377A>C	ENSP00000496470.1:p.Glu126Ala
ENST00000336906.4:c.377A>C	ENSP00000338082.4:p.Glu126Ala
ENST00000380252.5:c.347A>C	ENSP00000369602.1:p.Glu116Ala
ENST00000380259.6:c.377A>C	ENSP00000369609.2:p.Glu126Ala
ENST00000620888.4:c.315+948A>C	ENSP00000479637.1:n.315+948A>C
NM_000184.2:c.377A>C	NP_000175.1:p.Glu126Ala
NM_000184.3:c.377A>C MANE Select	NP_000175.1:p.Glu126Ala