Canonical Allele Identifier: CA2200880649
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173159T= , CM000678.2:g.173159T= GRCh38
NC_000016.9:g.223158T= , CM000678.1:g.223158T= GRCh37
NC_000016.8:g.163158T= NCBI36
NG_000006.1:g.34022T=
NG_059186.1:g.1509T=
NG_059271.1:g.5313T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.130T= MANE Select ENSP00000251595.6:p.Phe44=
ENST00000251595.10:c.130T= ENSP00000251595.6:p.Phe44=
ENST00000397806.1:c.34T= ENSP00000380908.1:p.Phe12=
ENST00000482565.1:n.266T=
ENST00000484216.1:n.99T=
NM_000517.4:c.130T= NP_000508.1:p.Phe44=
NM_000517.6:c.130T= MANE Select NP_000508.1:p.Phe44=