Canonical Allele Identifier: CA5185090
Gene: OR2K2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.111328297A>G
GRCh37 chr9:g.114090577A>G
Revel Score:
ENST00000302681 (MANE Select) 0.163
ENST00000374428 0.163
gnomAD v2:
9:114090577 A / G
gnomAD v3:
9:111328297 A / G
gnomAD v4:
chr9-111328297-A-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV004144053
ClinVar Variation:
2291253
dbSNP:
748571714
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.111328297A>G , CM000671.2:g.111328297A>G GRCh38
NC_000009.11:g.114090577A>G , CM000671.1:g.114090577A>G GRCh37
NC_000009.10:g.113130398A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302681.3:c.137T>C MANE Select ENSP00000305055.1:p.Ile46Thr
ENST00000302681.2:c.137T>C ENSP00000305055.1:p.Ile46Thr
ENST00000302681.1:c.137T>C ENSP00000305055.1:p.Ile46Thr
ENST00000374428.1:c.224T>C ENSP00000363550.1:p.Ile75Thr
NM_205859.1:c.137T>C NP_995581.1:p.Ile46Thr
XM_005251914.2:c.137T>C XP_005251971.1:p.Ile46Thr
XM_011518520.1:c.137T>C XP_011516822.1:p.Ile46Thr
XM_011518520.2:c.137T>C XP_011516822.1:p.Ile46Thr
NM_205859.2:c.137T>C MANE Select NP_995581.1:p.Ile46Thr
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