Canonical Allele Identifier: CA2612151147
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253109-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253109C>A , CM000673.2:g.5253109C>A GRCh38
NC_000011.9:g.5274339C>A , CM000673.1:g.5274339C>A GRCh37
NC_000011.8:g.5230915C>A NCBI36
NG_000007.3:g.44507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.315+1183G>T ENSP00000495346.1:n.315+1183G>T
ENST00000647543.1:c.378+234G>T ENSP00000496470.1:n.378+234G>T
ENST00000620888.4:c.315+1183G>T ENSP00000479637.1:n.315+1183G>T