Canonical Allele Identifier: CA393994605
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173559C>A , CM000678.2:g.173559C>A GRCh38
NC_000016.9:g.223558C>A , CM000678.1:g.223558C>A GRCh37
NC_000016.8:g.163558C>A NCBI36
NG_000006.1:g.34422C>A
NG_059186.1:g.1909C>A
NG_059271.1:g.5713C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.388C>A MANE Select ENSP00000251595.6:p.Leu130Met
ENST00000251595.10:c.388C>A ENSP00000251595.6:p.Leu130Met
ENST00000397806.1:c.292C>A ENSP00000380908.1:p.Leu98Met
ENST00000482565.1:n.524C>A
NM_000517.4:c.388C>A NP_000508.1:p.Leu130Met
NM_000517.6:c.388C>A MANE Select NP_000508.1:p.Leu130Met