Canonical Allele Identifier: CA379263501

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274530C>G (hg19) ; chr11:g.5253300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253300C>G , CM000673.2:g.5253300C>G	GRCh38
NC_000011.9:g.5274530C>G , CM000673.1:g.5274530C>G	GRCh37
NC_000011.8:g.5231106C>G	NCBI36
NG_000007.3:g.44316G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.421G>C MANE Select	ENSP00000338082.4:p.Ala141Pro
ENST00000380252.6:c.256G>C	ENSP00000369602.2:p.Ala86Pro
ENST00000642908.1:c.315+992G>C	ENSP00000495346.1:n.315+992G>C
ENST00000647543.1:c.378+43G>C	ENSP00000496470.1:n.378+43G>C
ENST00000336906.4:c.421G>C	ENSP00000338082.4:p.Ala141Pro
ENST00000380252.5:c.391G>C	ENSP00000369602.1:p.Ala131Pro
ENST00000380259.6:c.421G>C	ENSP00000369609.2:p.Ala141Pro
ENST00000620888.4:c.315+992G>C	ENSP00000479637.1:n.315+992G>C
NM_000184.2:c.421G>C	NP_000175.1:p.Ala141Pro
NM_000184.3:c.421G>C MANE Select	NP_000175.1:p.Ala141Pro