Canonical Allele Identifier: CA2200880675
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173190C= , CM000678.2:g.173190C= GRCh38
NC_000016.9:g.223189C= , CM000678.1:g.223189C= GRCh37
NC_000016.8:g.163189C= NCBI36
NG_000006.1:g.34053C=
NG_059186.1:g.1540C=
NG_059271.1:g.5344C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.161C= MANE Select ENSP00000251595.6:p.Ala54=
ENST00000251595.10:c.161C= ENSP00000251595.6:p.Ala54=
ENST00000397806.1:c.65C= ENSP00000380908.1:p.Ala22=
ENST00000482565.1:n.297C=
ENST00000484216.1:n.130C=
NM_000517.4:c.161C= NP_000508.1:p.Ala54=
NM_000517.6:c.161C= MANE Select NP_000508.1:p.Ala54=