Canonical Allele Identifier: CA2612150917

Gene: HBG2

Linked Data

• gnomAD v4: 11-5249939-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249939_5249940insCTG , CM000673.2:g.5249939_5249940insCTG	GRCh38
NC_000011.9:g.5271169_5271170insCTG , CM000673.1:g.5271169_5271170insCTG	GRCh37
NC_000011.8:g.5227745_5227746insCTG	NCBI36
NG_000007.3:g.47676_47677insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1453_316-1452insCAG	ENSP00000495346.1:n.316-1453_316-1452insCAG
ENST00000647543.1:c.379-1453_379-1452insCAG	ENSP00000496470.1:n.379-1453_379-1452insCAG
ENST00000620888.4:c.316-1453_316-1452insCAG	ENSP00000479637.1:n.316-1453_316-1452insCAG