Canonical Allele Identifier: CA2575852827
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173374-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173374C>A , CM000678.2:g.173374C>A GRCh38
NC_000016.9:g.223373C>A , CM000678.1:g.223373C>A GRCh37
NC_000016.8:g.163373C>A NCBI36
NG_000006.1:g.34237C>A
NG_059186.1:g.1724C>A
NG_059271.1:g.5528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+45C>A MANE Select ENSP00000251595.6:n.300+45C>A
ENST00000251595.10:c.300+45C>A ENSP00000251595.6:n.300+45C>A
ENST00000397806.1:c.204+45C>A ENSP00000380908.1:n.204+45C>A
ENST00000482565.1:n.436+45C>A
ENST00000484216.1:n.314C>A
NM_000517.4:c.300+45C>A NP_000508.1:n.300+45C>A
NM_000517.6:c.300+45C>A MANE Select NP_000508.1:n.300+45C>A
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