Canonical Allele Identifier: CA4542376
Gene: OR2A2 HGNC NCBI
OR2A14 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.144109661T>C
GRCh37 chr7:g.143806754T>C
Revel Score:
ENST00000408979 (MANE Select) 0.093
gnomAD v2:
7:143806754 T / C
gnomAD v4:
chr7-144109661-T-C
Joint Max Group AF 0.00007506 (SAS)
Exomes Max Group AF 0.00007997 (SAS)
ClinVar RCV:
RCV004126898
ClinVar Variation:
2276267
dbSNP:
765463207
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144109661T>C , CM000669.2:g.144109661T>C GRCh38
NC_000007.13:g.143806754T>C , CM000669.1:g.143806754T>C GRCh37
NC_000007.12:g.143437687T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000408979.3:c.79T>C (OR2A2) MANE Select ENSP00000386209.2:p.Cys27Arg
ENST00000408979.2:c.79T>C (OR2A2) ENSP00000386209.2:p.Cys27Arg
ENST00000627593.1:c.79T>C (OR2A14) ENSP00000486470.1:p.Cys27Arg
NM_001005480.2:c.79T>C (OR2A2) MANE Select NP_001005480.2:p.Cys27Arg
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