Canonical Allele Identifier: CA1564197
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 2360160
ClinVar RCV Id: RCV002986641
dbSNP Id: rs564169177
ExAC: 2:26703760 C / T
gnomAD v2: 2-26703760-C-T
gnomAD v3: 2-26480892-C-T
gnomAD v4: 2-26480892-C-T
MyVariant Identifiers: chr2:g.26703760C>T (hg19) chr2:g.26480892C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26480892C>T , CM000664.2:g.26480892C>T GRCh38
NC_000002.11:g.26703760C>T , CM000664.1:g.26703760C>T GRCh37
NC_000002.10:g.26557264C>T NCBI36
NG_009937.1:g.82807G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.1697G>A MANE Select ENSP00000272371.2:p.Arg566Gln
ENST00000272371.6:c.1697G>A ENSP00000272371.2:p.Arg566Gln
ENST00000403946.7:c.1697G>A ENSP00000385255.3:p.Arg566Gln
NM_001287489.1:c.1697G>A NP_001274418.1:p.Arg566Gln
NM_194248.2:c.1697G>A NP_919224.1:p.Arg566Gln
XM_005264644.2:c.1742G>A XP_005264701.1:p.Arg581Gln
XM_011533185.1:c.1742G>A XP_011531487.1:p.Arg581Gln
XM_017005338.1:c.1697G>A XP_016860827.1:p.Arg566Gln
NM_001287489.2:c.1697G>A NP_001274418.1:p.Arg566Gln
NM_194248.3:c.1697G>A MANE Select NP_919224.1:p.Arg566Gln
Search 100 bp 5'
Search 100 bp 3'