Canonical Allele Identifier: CA973582709
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs4021969
gnomAD v3: 16-173662-C-G
gnomAD v4: 16-173662-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173662C>G , CM000678.2:g.173662C>G GRCh38
NC_000016.9:g.223661C>G , CM000678.1:g.223661C>G GRCh37
NC_000016.8:g.163661C>G NCBI36
NG_000006.1:g.34525C>G
NG_059186.1:g.2012C>G
NG_059271.1:g.5816C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*62C>G MANE Select ENSP00000251595.6:n.*62C>G
ENST00000251595.10:c.*62C>G ENSP00000251595.6:n.*62C>G
ENST00000397806.1:c.*62C>G ENSP00000380908.1:n.*62C>G
ENST00000482565.1:n.627C>G
NM_000517.4:c.*62C>G NP_000508.1:n.*62C>G
NM_000517.6:c.*62C>G MANE Select NP_000508.1:n.*62C>G
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