Canonical Allele Identifier: CA281645
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15643
dbSNP Id: rs111033603
gnomAD v4: 16-172914-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172914T>C , CM000678.2:g.172914T>C GRCh38
NC_000016.9:g.222913T>C , CM000678.1:g.222913T>C GRCh37
NC_000016.8:g.162913T>C NCBI36
NG_000006.1:g.33777T>C
NG_059186.1:g.1264T>C
NG_059271.1:g.5068T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.2T>C MANE Select ENSP00000251595.6:p.Met1Thr
ENST00000251595.10:c.2T>C ENSP00000251595.6:p.Met1Thr
ENST00000397806.1:c.-46T>C ENSP00000380908.1:n.-46T>C
ENST00000482565.1:n.21T>C
NM_000517.4:c.2T>C NP_000508.1:p.Met1Thr
NM_000517.6:c.2T>C MANE Select NP_000508.1:p.Met1Thr