Canonical Allele Identifier: CA379263512

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274535G>C (hg19) ; chr11:g.5253305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253305G>C , CM000673.2:g.5253305G>C	GRCh38
NC_000011.9:g.5274535G>C , CM000673.1:g.5274535G>C	GRCh37
NC_000011.8:g.5231111G>C	NCBI36
NG_000007.3:g.44311C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.416C>G MANE Select	ENSP00000338082.4:p.Ala139Gly
ENST00000380252.6:c.251C>G	ENSP00000369602.2:p.Ala84Gly
ENST00000642908.1:c.315+987C>G	ENSP00000495346.1:n.315+987C>G
ENST00000647543.1:c.378+38C>G	ENSP00000496470.1:n.378+38C>G
ENST00000336906.4:c.416C>G	ENSP00000338082.4:p.Ala139Gly
ENST00000380252.5:c.386C>G	ENSP00000369602.1:p.Ala129Gly
ENST00000380259.6:c.416C>G	ENSP00000369609.2:p.Ala139Gly
ENST00000620888.4:c.315+987C>G	ENSP00000479637.1:n.315+987C>G
NM_000184.2:c.416C>G	NP_000175.1:p.Ala139Gly
NM_000184.3:c.416C>G MANE Select	NP_000175.1:p.Ala139Gly