Canonical Allele Identifier: CA2612151153
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5253117-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253117C>A , CM000673.2:g.5253117C>A GRCh38
NC_000011.9:g.5274347C>A , CM000673.1:g.5274347C>A GRCh37
NC_000011.8:g.5230923C>A NCBI36
NG_000007.3:g.44499G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.315+1175G>T ENSP00000495346.1:n.315+1175G>T
ENST00000647543.1:c.378+226G>T ENSP00000496470.1:n.378+226G>T
ENST00000620888.4:c.315+1175G>T ENSP00000479637.1:n.315+1175G>T
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