Canonical Allele Identifier: CA281649
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15686
dbSNP Id: rs281864819
gnomAD v3: 16-172982-G-T
gnomAD v4: 16-172982-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172982G>T , CM000678.2:g.172982G>T GRCh38
NC_000016.9:g.222981G>T , CM000678.1:g.222981G>T GRCh37
NC_000016.8:g.162981G>T NCBI36
NG_000006.1:g.33845G>T
NG_059186.1:g.1332G>T
NG_059271.1:g.5136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.70G>T MANE Select ENSP00000251595.6:p.Glu24Ter
ENST00000251595.10:c.70G>T ENSP00000251595.6:p.Glu24Ter
ENST00000397806.1:c.-2+24G>T ENSP00000380908.1:n.-2+24G>T
ENST00000482565.1:n.89G>T
ENST00000484216.1:n.39G>T
NM_000517.4:c.70G>T NP_000508.1:p.Glu24Ter
NM_000517.6:c.70G>T MANE Select NP_000508.1:p.Glu24Ter