Canonical Allele Identifier: CA2200880931
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173523T= , CM000678.2:g.173523T= GRCh38
NC_000016.9:g.223522T= , CM000678.1:g.223522T= GRCh37
NC_000016.8:g.163522T= NCBI36
NG_000006.1:g.34386T=
NG_059186.1:g.1873T=
NG_059271.1:g.5677T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.352T= MANE Select ENSP00000251595.6:p.Phe118=
ENST00000251595.10:c.352T= ENSP00000251595.6:p.Phe118=
ENST00000397806.1:c.256T= ENSP00000380908.1:p.Phe86=
ENST00000482565.1:n.488T=
NM_000517.4:c.352T= NP_000508.1:p.Phe118=
NM_000517.6:c.352T= MANE Select NP_000508.1:p.Phe118=