Canonical Allele Identifier: CA125569
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15636
dbSNP Id: rs281864834
gnomAD v2: 16-223170-G-C
gnomAD v3: 16-173171-G-C
gnomAD v4: 16-173171-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173171G>C , CM000678.2:g.173171G>C GRCh38
NC_000016.9:g.223170G>C , CM000678.1:g.223170G>C GRCh37
NC_000016.8:g.163170G>C NCBI36
NG_000006.1:g.34034G>C
NG_059186.1:g.1521G>C
NG_059271.1:g.5325G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.142G>C MANE Select ENSP00000251595.6:p.Asp48His
ENST00000251595.10:c.142G>C ENSP00000251595.6:p.Asp48His
ENST00000397806.1:c.46G>C ENSP00000380908.1:p.Asp16His
ENST00000482565.1:n.278G>C
ENST00000484216.1:n.111G>C
NM_000517.4:c.142G>C NP_000508.1:p.Asp48His
NM_000517.6:c.142G>C MANE Select NP_000508.1:p.Asp48His