Canonical Allele Identifier: CA393993535
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173223A>C , CM000678.2:g.173223A>C GRCh38
NC_000016.9:g.223222A>C , CM000678.1:g.223222A>C GRCh37
NC_000016.8:g.163222A>C NCBI36
NG_000006.1:g.34086A>C
NG_059186.1:g.1573A>C
NG_059271.1:g.5377A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.194A>C MANE Select ENSP00000251595.6:p.Asp65Ala
ENST00000251595.10:c.194A>C ENSP00000251595.6:p.Asp65Ala
ENST00000397806.1:c.98A>C ENSP00000380908.1:p.Asp33Ala
ENST00000482565.1:n.330A>C
ENST00000484216.1:n.163A>C
NM_000517.4:c.194A>C NP_000508.1:p.Asp65Ala
NM_000517.6:c.194A>C MANE Select NP_000508.1:p.Asp65Ala