Canonical Allele Identifier: CA393993533
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173222G>C , CM000678.2:g.173222G>C GRCh38
NC_000016.9:g.223221G>C , CM000678.1:g.223221G>C GRCh37
NC_000016.8:g.163221G>C NCBI36
NG_000006.1:g.34085G>C
NG_059186.1:g.1572G>C
NG_059271.1:g.5376G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.193G>C MANE Select ENSP00000251595.6:p.Asp65His
ENST00000251595.10:c.193G>C ENSP00000251595.6:p.Asp65His
ENST00000397806.1:c.97G>C ENSP00000380908.1:p.Asp33His
ENST00000482565.1:n.329G>C
ENST00000484216.1:n.162G>C
NM_000517.4:c.193G>C NP_000508.1:p.Asp65His
NM_000517.6:c.193G>C MANE Select NP_000508.1:p.Asp65His