Canonical Allele Identifier: CA2695221227
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173547dup , CM000678.2:g.173547dup GRCh38
NC_000016.9:g.223546dup , CM000678.1:g.223546dup GRCh37
NC_000016.8:g.163546dup NCBI36
NG_000006.1:g.34410dup
NG_059186.1:g.1897dup
NG_059271.1:g.5701dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.376dup MANE Select ENSP00000251595.6:p.Leu126ProfsTer?
ENST00000251595.10:c.376dup ENSP00000251595.6:p.Leu126ProfsTer?
ENST00000397806.1:c.280dup ENSP00000380908.1:p.Leu94ProfsTer?
ENST00000482565.1:n.512dup
NM_000517.4:c.376dup NP_000508.1:p.Leu126ProfsTer?
NM_000517.6:c.376dup MANE Select NP_000508.1:p.Leu126ProfsTer?