Canonical Allele Identifier: CA472633106

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274534G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253304G>C , CM000673.2:g.5253304G>C	GRCh38
NC_000011.9:g.5274534G>C , CM000673.1:g.5274534G>C	GRCh37
NC_000011.8:g.5231110G>C	NCBI36
NG_000007.3:g.44312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.417C>G MANE Select	ENSP00000338082.4:p.Ala139=
ENST00000380252.6:c.252C>G	ENSP00000369602.2:p.Ala84=
ENST00000642908.1:c.315+988C>G	ENSP00000495346.1:n.315+988C>G
ENST00000647543.1:c.378+39C>G	ENSP00000496470.1:n.378+39C>G
ENST00000336906.4:c.417C>G	ENSP00000338082.4:p.Ala139=
ENST00000380252.5:c.387C>G	ENSP00000369602.1:p.Ala129=
ENST00000380259.6:c.417C>G	ENSP00000369609.2:p.Ala139=
ENST00000620888.4:c.315+988C>G	ENSP00000479637.1:n.315+988C>G
NM_000184.2:c.417C>G	NP_000175.1:p.Ala139=
NM_000184.3:c.417C>G MANE Select	NP_000175.1:p.Ala139=