Canonical Allele Identifier: CA12367370
Gene: OR2H2 HGNC NCBI
GABBR1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29588982C>T
GRCh37 chr6:g.29556759C>T
gnomAD v2:
6:29556759 C / T
gnomAD v3:
6:29588982 C / T
gnomAD v4:
chr6-29588982-C-T
Joint Max Group AF 0.1338907 (SAS)
Genomes Max Group AF 0.12365937 (SAS)
Exomes Max Group AF 0.13418858 (SAS)
dbSNP:
362521
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29588982C>T , CM000668.2:g.29588982C>T GRCh38
NC_000006.11:g.29556759C>T , CM000668.1:g.29556759C>T GRCh37
NC_000006.10:g.29664738C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641840.1:c.*99C>T (OR2H2) MANE Select ENSP00000492959.1:n.*99C>T
ENST00000355973.7:c.*2+14559G>A (GABBR1) ENSP00000348248.3:n.*2+14559G>A
ENST00000383640.3:c.*99C>T (OR2H2) ENSP00000373136.2:n.*99C>T
XM_011514911.1:c.*99C>T (OR2H2) XP_011513213.1:n.*99C>T
XM_011514912.1:c.882+156C>T (OR2H2) XP_011513214.1:n.882+156C>T
XM_011514912.3:c.882+156C>T (OR2H2) XP_011513214.1:n.882+156C>T
NM_007160.4:c.*99C>T (OR2H2) MANE Select NP_009091.3:n.*99C>T
Search 100 bp 5'
Search 100 bp 3'