Canonical Allele Identifier: CA2612151184

Gene: HBG2

Linked Data

• gnomAD v4: 11-5253128-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253128A>G , CM000673.2:g.5253128A>G	GRCh38
NC_000011.9:g.5274358A>G , CM000673.1:g.5274358A>G	GRCh37
NC_000011.8:g.5230934A>G	NCBI36
NG_000007.3:g.44488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.315+1164T>C	ENSP00000495346.1:n.315+1164T>C
ENST00000647543.1:c.378+215T>C	ENSP00000496470.1:n.378+215T>C
ENST00000620888.4:c.315+1164T>C	ENSP00000479637.1:n.315+1164T>C