Canonical Allele Identifier: CA2695221218
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173197dup , CM000678.2:g.173197dup GRCh38
NC_000016.9:g.223196dup , CM000678.1:g.223196dup GRCh37
NC_000016.8:g.163196dup NCBI36
NG_000006.1:g.34060dup
NG_059186.1:g.1547dup
NG_059271.1:g.5351dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.168dup MANE Select ENSP00000251595.6:p.Lys57Ter
ENST00000251595.10:c.168dup ENSP00000251595.6:p.Lys57Ter
ENST00000397806.1:c.72dup ENSP00000380908.1:p.Lys25Ter
ENST00000482565.1:n.304dup
ENST00000484216.1:n.137dup
NM_000517.4:c.168dup NP_000508.1:p.Lys57Ter
NM_000517.6:c.168dup MANE Select NP_000508.1:p.Lys57Ter