Canonical Allele Identifier: CA379263516

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274536C>T (hg19) ; chr11:g.5253306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253306C>T , CM000673.2:g.5253306C>T	GRCh38
NC_000011.9:g.5274536C>T , CM000673.1:g.5274536C>T	GRCh37
NC_000011.8:g.5231112C>T	NCBI36
NG_000007.3:g.44310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.415G>A MANE Select	ENSP00000338082.4:p.Ala139Thr
ENST00000380252.6:c.250G>A	ENSP00000369602.2:p.Ala84Thr
ENST00000642908.1:c.315+986G>A	ENSP00000495346.1:n.315+986G>A
ENST00000647543.1:c.378+37G>A	ENSP00000496470.1:n.378+37G>A
ENST00000336906.4:c.415G>A	ENSP00000338082.4:p.Ala139Thr
ENST00000380252.5:c.385G>A	ENSP00000369602.1:p.Ala129Thr
ENST00000380259.6:c.415G>A	ENSP00000369609.2:p.Ala139Thr
ENST00000620888.4:c.315+986G>A	ENSP00000479637.1:n.315+986G>A
NM_000184.2:c.415G>A	NP_000175.1:p.Ala139Thr
NM_000184.3:c.415G>A MANE Select	NP_000175.1:p.Ala139Thr