Canonical Allele Identifier: CA117972
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6142
ClinVar RCV Id: RCV000006516 RCV000021054
dbSNP Id: rs80356596
MyVariant Identifiers: chr2:g.26698321A>G (hg19) chr2:g.26475453A>G (hg38)
PubMed: PMID:10192385 PMID:16097006 PMID:20301429
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475453A>G , CM000664.2:g.26475453A>G GRCh38
NC_000002.11:g.26698321A>G , CM000664.1:g.26698321A>G GRCh37
NC_000002.10:g.26551825A>G NCBI36
NG_009937.1:g.88246T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.3032T>C MANE Select ENSP00000272371.2:p.Leu1011Pro
ENST00000339598.8:c.791T>C MANE Plus Clinical ENSP00000344521.3:p.Leu264Pro
ENST00000402415.8:c.791T>C ENSP00000383906.4:p.Leu264Pro
ENST00000272371.6:c.3032T>C ENSP00000272371.2:p.Leu1011Pro
ENST00000338581.10:c.791T>C ENSP00000345137.6:p.Leu264Pro
ENST00000339598.7:c.791T>C ENSP00000344521.3:p.Leu264Pro
ENST00000402415.7:c.962T>C ENSP00000383906.3:p.Leu321Pro
ENST00000403946.7:c.3032T>C ENSP00000385255.3:p.Leu1011Pro
NM_001287489.1:c.3032T>C NP_001274418.1:p.Leu1011Pro
NM_004802.3:c.791T>C NP_004793.2:p.Leu264Pro
NM_194248.2:c.3032T>C NP_919224.1:p.Leu1011Pro
NM_194322.2:c.962T>C NP_919303.1:p.Leu321Pro
NM_194323.2:c.791T>C NP_919304.1:p.Leu264Pro
XM_005264644.2:c.3077T>C XP_005264701.1:p.Leu1026Pro
XM_011533185.1:c.3077T>C XP_011531487.1:p.Leu1026Pro
XM_017005338.1:c.3032T>C XP_016860827.1:p.Leu1011Pro
NM_001287489.2:c.3032T>C NP_001274418.1:p.Leu1011Pro
NM_004802.4:c.791T>C NP_004793.2:p.Leu264Pro
NM_194248.3:c.3032T>C MANE Select NP_919224.1:p.Leu1011Pro
NM_194322.3:c.962T>C NP_919303.1:p.Leu321Pro
NM_194323.3:c.791T>C MANE Plus Clinical NP_919304.1:p.Leu264Pro
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