Canonical Allele Identifier: CA174763
Gene: OR2T1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161776
ClinVar RCV Id: RCV000149312
dbSNP Id: rs193920936
ExAC: 1:248569431 G / A
gnomAD v2: 1-248569431-G-A
gnomAD v4: 1-248406130-G-A
COSMIC: COSM1180138
MyVariant Identifiers: chr1:g.248569431G>A (hg19) chr1:g.248406130G>A (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.248406130G>A , CM000663.2:g.248406130G>A GRCh38
NC_000001.10:g.248569431G>A , CM000663.1:g.248569431G>A GRCh37
NC_000001.9:g.246636054G>A NCBI36
NG_051766.1:g.5136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642005.1:c.-18G>A MANE Select ENSP00000493164.1:n.-18G>A
ENST00000366474.1:c.136G>A ENSP00000355430.1:p.Gly46Ser
NM_030904.1:c.136G>A NP_112166.1:p.Gly46Ser
NM_030904.2:c.-18G>A MANE Select NP_112166.2:n.-18G>A
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