Canonical Allele Identifier: CA2200880724
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173254C= , CM000678.2:g.173254C= GRCh38
NC_000016.9:g.223253C= , CM000678.1:g.223253C= GRCh37
NC_000016.8:g.163253C= NCBI36
NG_000006.1:g.34117C=
NG_059186.1:g.1604C=
NG_059271.1:g.5408C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.225C= MANE Select ENSP00000251595.6:p.Asp75=
ENST00000251595.10:c.225C= ENSP00000251595.6:p.Asp75=
ENST00000397806.1:c.129C= ENSP00000380908.1:p.Asp43=
ENST00000482565.1:n.361C=
ENST00000484216.1:n.194C=
NM_000517.4:c.225C= NP_000508.1:p.Asp75=
NM_000517.6:c.225C= MANE Select NP_000508.1:p.Asp75=