Canonical Allele Identifier: CA393994520
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 993108
dbSNP Id: rs1262943621
gnomAD v4: 16-173529-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173529C>G , CM000678.2:g.173529C>G GRCh38
NC_000016.9:g.223528C>G , CM000678.1:g.223528C>G GRCh37
NC_000016.8:g.163528C>G NCBI36
NG_000006.1:g.34392C>G
NG_059186.1:g.1879C>G
NG_059271.1:g.5683C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.358C>G MANE Select ENSP00000251595.6:p.Pro120Ala
ENST00000251595.10:c.358C>G ENSP00000251595.6:p.Pro120Ala
ENST00000397806.1:c.262C>G ENSP00000380908.1:p.Pro88Ala
ENST00000482565.1:n.494C>G
NM_000517.4:c.358C>G NP_000508.1:p.Pro120Ala
NM_000517.6:c.358C>G MANE Select NP_000508.1:p.Pro120Ala