Canonical Allele Identifier: CA2630738108
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173670-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173670C>A , CM000678.2:g.173670C>A GRCh38
NC_000016.9:g.223669C>A , CM000678.1:g.223669C>A GRCh37
NC_000016.8:g.163669C>A NCBI36
NG_000006.1:g.34533C>A
NG_059186.1:g.2020C>A
NG_059271.1:g.5824C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*70C>A MANE Select ENSP00000251595.6:n.*70C>A
ENST00000251595.10:c.*70C>A ENSP00000251595.6:n.*70C>A
ENST00000397806.1:c.*70C>A ENSP00000380908.1:n.*70C>A
ENST00000482565.1:n.635C>A
NM_000517.4:c.*70C>A NP_000508.1:n.*70C>A
NM_000517.6:c.*70C>A MANE Select NP_000508.1:n.*70C>A