Canonical Allele Identifier: CA393993173
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172998C>A , CM000678.2:g.172998C>A GRCh38
NC_000016.9:g.222997C>A , CM000678.1:g.222997C>A GRCh37
NC_000016.8:g.162997C>A NCBI36
NG_000006.1:g.33861C>A
NG_059186.1:g.1348C>A
NG_059271.1:g.5152C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.86C>A MANE Select ENSP00000251595.6:p.Ala29Asp
ENST00000251595.10:c.86C>A ENSP00000251595.6:p.Ala29Asp
ENST00000397806.1:c.-2+40C>A ENSP00000380908.1:n.-2+40C>A
ENST00000482565.1:n.105C>A
ENST00000484216.1:n.55C>A
NM_000517.4:c.86C>A NP_000508.1:p.Ala29Asp
NM_000517.6:c.86C>A MANE Select NP_000508.1:p.Ala29Asp