Canonical Allele Identifier: CA217120511

Gene: HBG2

Linked Data

• dbSNP Id: rs889767839
• gnomAD v3: 11-5253248-T-G
• gnomAD v4: 11-5253248-T-G
• MyVariant Identifiers: chr11:g.5274478T>G (hg19) ; chr11:g.5253248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253248T>G , CM000673.2:g.5253248T>G	GRCh38
NC_000011.9:g.5274478T>G , CM000673.1:g.5274478T>G	GRCh37
NC_000011.8:g.5231054T>G	NCBI36
NG_000007.3:g.44368A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*29A>C MANE Select	ENSP00000338082.4:n.*29A>C
ENST00000380252.6:c.*29A>C	ENSP00000369602.2:n.*29A>C
ENST00000642908.1:c.315+1044A>C	ENSP00000495346.1:n.315+1044A>C
ENST00000647543.1:c.378+95A>C	ENSP00000496470.1:n.378+95A>C
ENST00000336906.4:c.*29A>C	ENSP00000338082.4:n.*29A>C
ENST00000380252.5:c.*29A>C	ENSP00000369602.1:n.*29A>C
ENST00000380259.6:c.*29A>C	ENSP00000369609.2:n.*29A>C
ENST00000620888.4:c.315+1044A>C	ENSP00000479637.1:n.315+1044A>C
NM_000184.2:c.*29A>C	NP_000175.1:n.*29A>C
NM_000184.3:c.*29A>C MANE Select	NP_000175.1:n.*29A>C