Canonical Allele Identifier: CA276414422
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 801178
ClinVar RCV Id: RCV000985728
dbSNP Id: rs281864817
gnomAD v2: 16-222975-G-C
gnomAD v3: 16-172976-G-C
gnomAD v4: 16-172976-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172976G>C , CM000678.2:g.172976G>C GRCh38
NC_000016.9:g.222975G>C , CM000678.1:g.222975G>C GRCh37
NC_000016.8:g.162975G>C NCBI36
NG_000006.1:g.33839G>C
NG_059186.1:g.1326G>C
NG_059271.1:g.5130G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.64G>C MANE Select ENSP00000251595.6:p.Ala22Pro
ENST00000251595.10:c.64G>C ENSP00000251595.6:p.Ala22Pro
ENST00000397806.1:c.-2+18G>C ENSP00000380908.1:n.-2+18G>C
ENST00000482565.1:n.83G>C
ENST00000484216.1:n.33G>C
NM_000517.4:c.64G>C NP_000508.1:p.Ala22Pro
NM_000517.6:c.64G>C MANE Select NP_000508.1:p.Ala22Pro