Canonical Allele Identifier: CA10760281
Gene: OR2B11 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.247453734G>T
GRCh37 chr1:g.247617036G>T
gnomAD v2:
1:247617036 G / T
gnomAD v3:
1:247453734 G / T
gnomAD v4:
chr1-247453734-G-T
Joint Max Group AF 0.76925327 (AFR)
Genomes Max Group AF 0.76925327 (AFR)
Exomes Max Group AF 0.4355024 (NFE)
dbSNP:
4353135
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.247453734G>T , CM000663.2:g.247453734G>T GRCh38
NC_000001.10:g.247617036G>T , CM000663.1:g.247617036G>T GRCh37
NC_000001.9:g.245683659G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641149.2:c.-1752C>A MANE Select ENSP00000492892.1:n.-1752C>A
ENST00000641149.1:c.-1752C>A ENSP00000492892.1:n.-1752C>A
ENST00000641527.1:c.-1101-651C>A ENSP00000493421.1:n.-1101-651C>A
ENST00000641613.1:n.482+1219C>A
NM_001004492.2:c.-1752C>A MANE Select NP_001004492.1:n.-1752C>A
NR_169840.1:n.482+1219C>A
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