Canonical Allele Identifier: CA1949587782

Gene: HBG2

Linked Data

• dbSNP Id: rs1847968643
• gnomAD v4: 11-5253138-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253138T>C , CM000673.2:g.5253138T>C	GRCh38
NC_000011.9:g.5274368T>C , CM000673.1:g.5274368T>C	GRCh37
NC_000011.8:g.5230944T>C	NCBI36
NG_000007.3:g.44478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.315+1154A>G	ENSP00000495346.1:n.315+1154A>G
ENST00000647543.1:c.378+205A>G	ENSP00000496470.1:n.378+205A>G
ENST00000620888.4:c.315+1154A>G	ENSP00000479637.1:n.315+1154A>G