Canonical Allele Identifier: CA2695221212
Gene: HBA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173148_173150del , CM000678.2:g.173148_173150del GRCh38
NC_000016.9:g.223147_223149del , CM000678.1:g.223147_223149del GRCh37
NC_000016.8:g.163147_163149del NCBI36
NG_000006.1:g.34011_34013del
NG_059186.1:g.1498_1500del
NG_059271.1:g.5302_5304del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.119_121del MANE Select ENSP00000251595.6:p.Thr40del
ENST00000251595.10:c.119_121del ENSP00000251595.6:p.Thr40del
ENST00000397806.1:c.23_25del ENSP00000380908.1:p.Thr8del
ENST00000482565.1:n.255_257del
ENST00000484216.1:n.88_90del
NM_000517.4:c.119_121del NP_000508.1:p.Thr40del
NM_000517.6:c.119_121del MANE Select NP_000508.1:p.Thr40del