Canonical Allele Identifier: CA2200880947
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173546C= , CM000678.2:g.173546C= GRCh38
NC_000016.9:g.223545C= , CM000678.1:g.223545C= GRCh37
NC_000016.8:g.163545C= NCBI36
NG_000006.1:g.34409C=
NG_059186.1:g.1896C=
NG_059271.1:g.5700C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.375C= MANE Select ENSP00000251595.6:p.Ser125=
ENST00000251595.10:c.375C= ENSP00000251595.6:p.Ser125=
ENST00000397806.1:c.279C= ENSP00000380908.1:p.Ser93=
ENST00000482565.1:n.511C=
NM_000517.4:c.375C= NP_000508.1:p.Ser125=
NM_000517.6:c.375C= MANE Select NP_000508.1:p.Ser125=