Canonical Allele Identifier: CA2630738079
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173629-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173629C>A , CM000678.2:g.173629C>A GRCh38
NC_000016.9:g.223628C>A , CM000678.1:g.223628C>A GRCh37
NC_000016.8:g.163628C>A NCBI36
NG_000006.1:g.34492C>A
NG_059186.1:g.1979C>A
NG_059271.1:g.5783C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*29C>A MANE Select ENSP00000251595.6:n.*29C>A
ENST00000251595.10:c.*29C>A ENSP00000251595.6:n.*29C>A
ENST00000397806.1:c.*29C>A ENSP00000380908.1:n.*29C>A
ENST00000482565.1:n.594C>A
NM_000517.4:c.*29C>A NP_000508.1:n.*29C>A
NM_000517.6:c.*29C>A MANE Select NP_000508.1:n.*29C>A