Canonical Allele Identifier: CA142888
Gene: OTOF HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition nonsyndromic genetic deafness
VCEP Hearing Loss VCEP
COSMIC:
COSM5354480 (not active)
COSM5354481 (not active)
COSM5354482 (not active)
MyVariant.info:
GRCh38 chr2:g.26466751T>A
GRCh37 chr2:g.26689619T>A
Revel Score:
ENST00000338581 0.805
ENST00000339598 (MANE Plus Clinical) 0.805
ENST00000402415 0.805
ENST00000272371 (MANE Select) 0.805
ENST00000403946 0.805
gnomAD v2:
2:26689619 T / A
gnomAD v3:
2:26466751 T / A
gnomAD v4:
chr2-26466751-T-A
Joint Max Group AF 0.00124063 (NFE)
Genomes Max Group AF 0.001223 (NFE)
Exomes Max Group AF 0.00122933 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26466751T>A , CM000664.2:g.26466751T>A GRCh38
NC_000002.11:g.26689619T>A , CM000664.1:g.26689619T>A GRCh37
NC_000002.10:g.26543123T>A NCBI36
NG_009937.1:g.96948A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.4463A>T MANE Select ENSP00000272371.2:p.Asp1488Val
ENST00000339598.8:c.2162A>T MANE Plus Clinical ENSP00000344521.3:p.Asp721Val
ENST00000402415.8:c.2222A>T ENSP00000383906.4:p.Asp741Val
ENST00000272371.6:c.4463A>T ENSP00000272371.2:p.Asp1488Val
ENST00000338581.10:c.2162A>T ENSP00000345137.6:p.Asp721Val
ENST00000339598.7:c.2162A>T ENSP00000344521.3:p.Asp721Val
ENST00000402415.7:c.2393A>T ENSP00000383906.3:p.Asp798Val
ENST00000403946.7:c.4463A>T ENSP00000385255.3:p.Asp1488Val
NM_001287489.1:c.4463A>T NP_001274418.1:p.Asp1488Val
NM_004802.3:c.2162A>T NP_004793.2:p.Asp721Val
NM_194248.2:c.4463A>T NP_919224.1:p.Asp1488Val
NM_194322.2:c.2393A>T NP_919303.1:p.Asp798Val
NM_194323.2:c.2162A>T NP_919304.1:p.Asp721Val
XM_005264644.2:c.4448A>T XP_005264701.1:p.Asp1483Val
XM_011533185.1:c.4508A>T XP_011531487.1:p.Asp1503Val
XM_017005338.1:c.4403A>T XP_016860827.1:p.Asp1468Val
NM_001287489.2:c.4463A>T NP_001274418.1:p.Asp1488Val
NM_004802.4:c.2162A>T NP_004793.2:p.Asp721Val
NM_194248.3:c.4463A>T MANE Select NP_919224.1:p.Asp1488Val
NM_194322.3:c.2393A>T NP_919303.1:p.Asp798Val
NM_194323.3:c.2162A>T MANE Plus Clinical NP_919304.1:p.Asp721Val
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