Canonical Allele Identifier: CA276414349
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 993109
ClinVar RCV Id: RCV001284151
dbSNP Id: rs281864809
gnomAD v2: 16-222949-C-A
gnomAD v4: 16-172950-C-A
MyVariant Identifiers: chr16:g.222949C>A (hg19) chr16:g.172950C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172950C>A , CM000678.2:g.172950C>A GRCh38
NC_000016.9:g.222949C>A , CM000678.1:g.222949C>A GRCh37
NC_000016.8:g.162949C>A NCBI36
NG_000006.1:g.33813C>A
NG_059186.1:g.1300C>A
NG_059271.1:g.5104C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.38C>A MANE Select ENSP00000251595.6:p.Ala13Asp
ENST00000251595.10:c.38C>A ENSP00000251595.6:p.Ala13Asp
ENST00000397806.1:c.-10C>A ENSP00000380908.1:n.-10C>A
ENST00000482565.1:n.57C>A
ENST00000484216.1:n.7C>A
NM_000517.4:c.38C>A NP_000508.1:p.Ala13Asp
NM_000517.6:c.38C>A MANE Select NP_000508.1:p.Ala13Asp
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Search 100 bp 3'