Canonical Allele Identifier: CA276414419
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15774
ClinVar RCV Id: RCV000017094
dbSNP Id: rs41525149
MyVariant Identifiers: chr16:g.222974C>A (hg19) chr16:g.172975C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172975C>A , CM000678.2:g.172975C>A GRCh38
NC_000016.9:g.222974C>A , CM000678.1:g.222974C>A GRCh37
NC_000016.8:g.162974C>A NCBI36
NG_000006.1:g.33838C>A
NG_059186.1:g.1325C>A
NG_059271.1:g.5129C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.63C>A MANE Select ENSP00000251595.6:p.His21Gln
ENST00000251595.10:c.63C>A ENSP00000251595.6:p.His21Gln
ENST00000397806.1:c.-2+17C>A ENSP00000380908.1:n.-2+17C>A
ENST00000482565.1:n.82C>A
ENST00000484216.1:n.32C>A
NM_000517.4:c.63C>A NP_000508.1:p.His21Gln
NM_000517.6:c.63C>A MANE Select NP_000508.1:p.His21Gln
Search 100 bp 5'
Search 100 bp 3'