Canonical Allele Identifier: CA934695809

Gene: HBG2

Linked Data

• gnomAD v3: 11-5250069-A-C
• gnomAD v4: 11-5250069-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250069A>C , CM000673.2:g.5250069A>C	GRCh38
NC_000011.9:g.5271299A>C , CM000673.1:g.5271299A>C	GRCh37
NC_000011.8:g.5227875A>C	NCBI36
NG_000007.3:g.47547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1582T>G	ENSP00000495346.1:n.316-1582T>G
ENST00000647543.1:c.379-1582T>G	ENSP00000496470.1:n.379-1582T>G
ENST00000620888.4:c.316-1582T>G	ENSP00000479637.1:n.316-1582T>G