Canonical Allele Identifier: CA135977858
Gene: OR2I1P HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29553100T>A
GRCh37 chr6:g.29520877T>A
gnomAD v2:
6:29520877 T / A
gnomAD v3:
6:29553100 T / A
gnomAD v4:
chr6-29553100-T-A
Joint Max Group AF 0.00006868 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.0000731 (NFE)
dbSNP:
16895057
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29553100T>A , CM000668.2:g.29553100T>A GRCh38
NC_000006.11:g.29520877T>A , CM000668.1:g.29520877T>A GRCh37
NC_000006.10:g.29628856T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641137.2:c.7-125T>A MANE Select ENSP00000493715.1:n.7-125T>A
ENST00000641137.1:c.7-125T>A ENSP00000493715.1:n.7-125T>A
ENST00000641730.1:n.744T>A
ENST00000642037.1:n.195-125T>A
NM_001396058.1:c.7-125T>A MANE Select NP_001382987.1:n.7-125T>A
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