Canonical Allele Identifier: CA276415583
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs41406048

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173598_173600delinsCAT , CM000678.2:g.173598_173600delinsCAT GRCh38
NC_000016.9:g.223597_223599delinsCAT , CM000678.1:g.223597_223599delinsCAT GRCh37
NC_000016.8:g.163597_163599delinsCAT NCBI36
NG_000006.1:g.34461_34463delinsCAT
NG_059186.1:g.1948_1950delinsCAT
NG_059271.1:g.5752_5754delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.427_429delinsCAT MANE Select ENSP00000251595.6:p.Ter143His
ENST00000251595.10:c.427_429delinsCAT ENSP00000251595.6:p.Ter143His
ENST00000397806.1:c.331_333delinsCAT ENSP00000380908.1:p.Ter111His
ENST00000482565.1:n.563_565delinsCAT
NM_000517.4:c.427_429delinsCAT NP_000508.1:p.Ter143His
NM_000517.6:c.427_429delinsCAT MANE Select NP_000508.1:p.Ter143His