Canonical Allele Identifier: CA393993631
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173250T>A , CM000678.2:g.173250T>A GRCh38
NC_000016.9:g.223249T>A , CM000678.1:g.223249T>A GRCh37
NC_000016.8:g.163249T>A NCBI36
NG_000006.1:g.34113T>A
NG_059186.1:g.1600T>A
NG_059271.1:g.5404T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.221T>A MANE Select ENSP00000251595.6:p.Val74Glu
ENST00000251595.10:c.221T>A ENSP00000251595.6:p.Val74Glu
ENST00000397806.1:c.125T>A ENSP00000380908.1:p.Val42Glu
ENST00000482565.1:n.357T>A
ENST00000484216.1:n.190T>A
NM_000517.4:c.221T>A NP_000508.1:p.Val74Glu
NM_000517.6:c.221T>A MANE Select NP_000508.1:p.Val74Glu