Canonical Allele Identifier: CA1505448
Gene: OR2T29 HGNC NCBI
OR14I1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.248558785T>G
GRCh37 chr1:g.248722086T>G
Revel Score:
ENST00000328570 0.036
gnomAD v2:
1:248722086 T / G
gnomAD v3:
1:248558785 T / G
gnomAD v4:
chr1-248558785-T-G
Joint Max Group AF 0.50218156 (EAS)
Exomes Max Group AF 0.50218156 (EAS)
ClinVar RCV:
RCV004138990
ClinVar Variation:
2286946
dbSNP:
1981235
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.248558785T>G , CM000663.2:g.248558785T>G GRCh38
NC_000001.10:g.248722086T>G , CM000663.1:g.248722086T>G GRCh37
NC_000001.9:g.246788709T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328570.6:c.707A>C (OR2T29) ENSP00000331774.3:p.Glu236Ala
ENST00000328570.5:c.707A>C (OR2T29) ENSP00000331774.3:p.Glu236Ala
ENST00000641069.1:c.707A>C (OR2T29) MANE Select ENSP00000492895.1:p.Glu236Ala
ENST00000328570.4:c.707A>C (OR2T29) ENSP00000331774.3:p.Glu236Ala
NM_001004694.2:c.707A>C (OR2T29) NP_001004694.2:p.Glu236Ala
XR_949140.1:n.54-59472A>C (OR14I1)
XR_949143.1:n.54-59472A>C (OR14I1)
NM_001004694.3:c.707A>C (OR2T29) MANE Select NP_001004694.2:p.Glu236Ala
Search 100 bp 5'
Search 100 bp 3'