Canonical Allele Identifier: CA913190956
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 619680
ClinVar RCV Id: RCV000759050
dbSNP Id: rs1567163566
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173376C>A , CM000678.2:g.173376C>A GRCh38
NC_000016.9:g.223375C>A , CM000678.1:g.223375C>A GRCh37
NC_000016.8:g.163375C>A NCBI36
NG_000006.1:g.34239C>A
NG_059186.1:g.1726C>A
NG_059271.1:g.5530C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.300+47C>A MANE Select ENSP00000251595.6:n.300+47C>A
ENST00000251595.10:c.300+47C>A ENSP00000251595.6:n.300+47C>A
ENST00000397806.1:c.204+47C>A ENSP00000380908.1:n.204+47C>A
ENST00000482565.1:n.436+47C>A
ENST00000484216.1:n.316C>A
NM_000517.4:c.300+47C>A NP_000508.1:n.300+47C>A
NM_000517.6:c.300+47C>A MANE Select NP_000508.1:n.300+47C>A
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