Canonical Allele Identifier: CA2200880949
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173550G= , CM000678.2:g.173550G= GRCh38
NC_000016.9:g.223549G= , CM000678.1:g.223549G= GRCh37
NC_000016.8:g.163549G= NCBI36
NG_000006.1:g.34413G=
NG_059186.1:g.1900G=
NG_059271.1:g.5704G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.379G= MANE Select ENSP00000251595.6:p.Asp127=
ENST00000251595.10:c.379G= ENSP00000251595.6:p.Asp127=
ENST00000397806.1:c.283G= ENSP00000380908.1:p.Asp95=
ENST00000482565.1:n.515G=
NM_000517.4:c.379G= NP_000508.1:p.Asp127=
NM_000517.6:c.379G= MANE Select NP_000508.1:p.Asp127=