Canonical Allele Identifier: CA393993804
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173288C>A , CM000678.2:g.173288C>A GRCh38
NC_000016.9:g.223287C>A , CM000678.1:g.223287C>A GRCh37
NC_000016.8:g.163287C>A NCBI36
NG_000006.1:g.34151C>A
NG_059186.1:g.1638C>A
NG_059271.1:g.5442C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.259C>A MANE Select ENSP00000251595.6:p.Leu87Met
ENST00000251595.10:c.259C>A ENSP00000251595.6:p.Leu87Met
ENST00000397806.1:c.163C>A ENSP00000380908.1:p.Leu55Met
ENST00000482565.1:n.395C>A
ENST00000484216.1:n.228C>A
NM_000517.4:c.259C>A NP_000508.1:p.Leu87Met
NM_000517.6:c.259C>A MANE Select NP_000508.1:p.Leu87Met