Canonical Allele Identifier: CA677767942
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1283868312
gnomAD v3: 11-5250100-C-T
gnomAD v4: 11-5250100-C-T
MyVariant Identifiers: chr11:g.5271330C>T (hg19) chr11:g.5250100C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250100C>T , CM000673.2:g.5250100C>T GRCh38
NC_000011.9:g.5271330C>T , CM000673.1:g.5271330C>T GRCh37
NC_000011.8:g.5227906C>T NCBI36
NG_000007.3:g.47516G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1613G>A ENSP00000495346.1:n.316-1613G>A
ENST00000647543.1:c.379-1613G>A ENSP00000496470.1:n.379-1613G>A
ENST00000620888.4:c.316-1613G>A ENSP00000479637.1:n.316-1613G>A
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