Canonical Allele Identifier: CA620304381
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 618157
ClinVar RCV Id: RCV000756227
dbSNP Id: rs1462495649
gnomAD v2: 16-223624-C-T
gnomAD v4: 16-173625-C-T
MyVariant Identifiers: chr16:g.223624C>T (hg19) chr16:g.173625C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173625C>T , CM000678.2:g.173625C>T GRCh38
NC_000016.9:g.223624C>T , CM000678.1:g.223624C>T GRCh37
NC_000016.8:g.163624C>T NCBI36
NG_000006.1:g.34488C>T
NG_059186.1:g.1975C>T
NG_059271.1:g.5779C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*25C>T MANE Select ENSP00000251595.6:n.*25C>T
ENST00000251595.10:c.*25C>T ENSP00000251595.6:n.*25C>T
ENST00000397806.1:c.*25C>T ENSP00000380908.1:n.*25C>T
ENST00000482565.1:n.590C>T
NM_000517.4:c.*25C>T NP_000508.1:n.*25C>T
NM_000517.6:c.*25C>T MANE Select NP_000508.1:n.*25C>T
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