Canonical Allele Identifier: CA393993269
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173139T>A , CM000678.2:g.173139T>A GRCh38
NC_000016.9:g.223138T>A , CM000678.1:g.223138T>A GRCh37
NC_000016.8:g.163138T>A NCBI36
NG_000006.1:g.34002T>A
NG_059186.1:g.1489T>A
NG_059271.1:g.5293T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.110T>A MANE Select ENSP00000251595.6:p.Phe37Tyr
ENST00000251595.10:c.110T>A ENSP00000251595.6:p.Phe37Tyr
ENST00000397806.1:c.14T>A ENSP00000380908.1:p.Phe5Tyr
ENST00000482565.1:n.246T>A
ENST00000484216.1:n.79T>A
NM_000517.4:c.110T>A NP_000508.1:p.Phe37Tyr
NM_000517.6:c.110T>A MANE Select NP_000508.1:p.Phe37Tyr