Canonical Allele Identifier: CA934695747
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1847927051
gnomAD v3: 11-5249917-G-A
gnomAD v4: 11-5249917-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249917G>A , CM000673.2:g.5249917G>A GRCh38
NC_000011.9:g.5271147G>A , CM000673.1:g.5271147G>A GRCh37
NC_000011.8:g.5227723G>A NCBI36
NG_000007.3:g.47699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1430C>T ENSP00000495346.1:n.316-1430C>T
ENST00000647543.1:c.379-1430C>T ENSP00000496470.1:n.379-1430C>T
ENST00000620888.4:c.316-1430C>T ENSP00000479637.1:n.316-1430C>T
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