Canonical Allele Identifier: CA276414878
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs281864860

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173259T>A , CM000678.2:g.173259T>A GRCh38
NC_000016.9:g.223258T>A , CM000678.1:g.223258T>A GRCh37
NC_000016.8:g.163258T>A NCBI36
NG_000006.1:g.34122T>A
NG_059186.1:g.1609T>A
NG_059271.1:g.5413T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.230T>A MANE Select ENSP00000251595.6:p.Met77Lys
ENST00000251595.10:c.230T>A ENSP00000251595.6:p.Met77Lys
ENST00000397806.1:c.134T>A ENSP00000380908.1:p.Met45Lys
ENST00000482565.1:n.366T>A
ENST00000484216.1:n.199T>A
NM_000517.4:c.230T>A NP_000508.1:p.Met77Lys
NM_000517.6:c.230T>A MANE Select NP_000508.1:p.Met77Lys