Canonical Allele Identifier: CA1502837
Gene: OR2M7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.248324336A>G
GRCh37 chr1:g.248487638A>G
Revel Score:
ENST00000317965 (MANE Select) 0.038
gnomAD v2:
1:248487638 A / G
gnomAD v3:
1:248324336 A / G
gnomAD v4:
chr1-248324336-A-G
Joint Max Group AF 0.85522771 (SAS)
Genomes Max Group AF 0.85203471 (SAS)
Exomes Max Group AF 0.8543197 (SAS)
dbSNP:
7555310
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.248324336A>G , CM000663.2:g.248324336A>G GRCh38
NC_000001.10:g.248487638A>G , CM000663.1:g.248487638A>G GRCh37
NC_000001.9:g.246554261A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317965.3:c.233T>C MANE Select ENSP00000324557.2:p.Val78Ala
NM_001004691.1:c.233T>C MANE Select NP_001004691.1:p.Val78Ala
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