Canonical Allele Identifier: CA276414983
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428678
ClinVar RCV Id: RCV003120279
dbSNP Id: rs281864867
MyVariant Identifiers: chr16:g.223291A>C (hg19) chr16:g.173292A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173292A>C , CM000678.2:g.173292A>C GRCh38
NC_000016.9:g.223291A>C , CM000678.1:g.223291A>C GRCh37
NC_000016.8:g.163291A>C NCBI36
NG_000006.1:g.34155A>C
NG_059186.1:g.1642A>C
NG_059271.1:g.5446A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.263A>C MANE Select ENSP00000251595.6:p.His88Pro
ENST00000251595.10:c.263A>C ENSP00000251595.6:p.His88Pro
ENST00000397806.1:c.167A>C ENSP00000380908.1:p.His56Pro
ENST00000482565.1:n.399A>C
ENST00000484216.1:n.232A>C
NM_000517.4:c.263A>C NP_000508.1:p.His88Pro
NM_000517.6:c.263A>C MANE Select NP_000508.1:p.His88Pro
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