Canonical Allele Identifier: CA1949584458
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1847928999
gnomAD v3: 11-5250078-C-CTACT
gnomAD v4: 11-5250078-C-CTACT
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250080_5250081insCTTA , CM000673.2:g.5250080_5250081insCTTA GRCh38
NC_000011.9:g.5271310_5271311insCTTA , CM000673.1:g.5271310_5271311insCTTA GRCh37
NC_000011.8:g.5227886_5227887insCTTA NCBI36
NG_000007.3:g.47537_47538insAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1592_316-1591insAGTA ENSP00000495346.1:n.316-1592_316-1591insAGTA
ENST00000647543.1:c.379-1592_379-1591insAGTA ENSP00000496470.1:n.379-1592_379-1591insAGTA
ENST00000620888.4:c.316-1592_316-1591insAGTA ENSP00000479637.1:n.316-1592_316-1591insAGTA
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