Canonical Allele Identifier: CA345139
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 65811
ClinVar RCV Id: RCV000056051 RCV003387750 RCV003556147 RCV003984818
dbSNP Id: rs397515608
ExAC: 2:26683865 C / T
gnomAD v2: 2-26683865-C-T
gnomAD v4: 2-26460997-C-T
COSMIC: COSM5458961 COSM5458962 COSM5458963
MyVariant Identifiers: chr2:g.26683865C>T (hg19) chr2:g.26460997C>T (hg38)
PubMed: PMID:19250381 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460997C>T , CM000664.2:g.26460997C>T GRCh38
NC_000002.11:g.26683865C>T , CM000664.1:g.26683865C>T GRCh37
NC_000002.10:g.26537369C>T NCBI36
NG_009937.1:g.102702G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5567G>A MANE Select ENSP00000272371.2:p.Arg1856Gln
ENST00000339598.8:c.3266G>A MANE Plus Clinical ENSP00000344521.3:p.Arg1089Gln
ENST00000402415.8:c.3326G>A ENSP00000383906.4:p.Arg1109Gln
ENST00000272371.6:c.5567G>A ENSP00000272371.2:p.Arg1856Gln
ENST00000338581.10:c.3266G>A ENSP00000345137.6:p.Arg1089Gln
ENST00000339598.7:c.3266G>A ENSP00000344521.3:p.Arg1089Gln
ENST00000402415.7:c.3497G>A ENSP00000383906.3:p.Arg1166Gln
ENST00000403946.7:c.5567G>A ENSP00000385255.3:p.Arg1856Gln
NM_001287489.1:c.5567G>A NP_001274418.1:p.Arg1856Gln
NM_004802.3:c.3266G>A NP_004793.2:p.Arg1089Gln
NM_194248.2:c.5567G>A NP_919224.1:p.Arg1856Gln
NM_194322.2:c.3497G>A NP_919303.1:p.Arg1166Gln
NM_194323.2:c.3266G>A NP_919304.1:p.Arg1089Gln
XM_005264644.2:c.5552G>A XP_005264701.1:p.Arg1851Gln
XM_011533185.1:c.5612G>A XP_011531487.1:p.Arg1871Gln
XM_017005338.1:c.5507G>A XP_016860827.1:p.Arg1836Gln
NM_001287489.2:c.5567G>A NP_001274418.1:p.Arg1856Gln
NM_004802.4:c.3266G>A NP_004793.2:p.Arg1089Gln
NM_194248.3:c.5567G>A MANE Select NP_919224.1:p.Arg1856Gln
NM_194322.3:c.3497G>A NP_919303.1:p.Arg1166Gln
NM_194323.3:c.3266G>A MANE Plus Clinical NP_919304.1:p.Arg1089Gln
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