Canonical Allele Identifier: CA1563614
Gene: OTOF HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.26474532G>A
GRCh37 chr2:g.26697400G>A
Revel Score:
ENST00000338581 0.401
ENST00000339598 (MANE Plus Clinical) 0.401
ENST00000402415 0.401
ENST00000272371 (MANE Select) 0.401
ENST00000403946 0.401
gnomAD v2:
2:26697400 G / A
gnomAD v3:
2:26474532 G / A
gnomAD v4:
chr2-26474532-G-A
Joint Max Group AF 0.0000437 (AFR)
Exomes Max Group AF 0.00007723 (AFR)
ClinVar RCV:
RCV003830670
ClinVar Variation:
2975064
dbSNP:
370609551
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26474532G>A , CM000664.2:g.26474532G>A GRCh38
NC_000002.11:g.26697400G>A , CM000664.1:g.26697400G>A GRCh37
NC_000002.10:g.26550904G>A NCBI36
NG_009937.1:g.89167C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272371.7:c.3269C>T MANE Select ENSP00000272371.2:p.Ala1090Val
ENST00000339598.8:c.1028C>T MANE Plus Clinical ENSP00000344521.3:p.Ala343Val
ENST00000402415.8:c.1028C>T ENSP00000383906.4:p.Ala343Val
ENST00000272371.6:c.3269C>T ENSP00000272371.2:p.Ala1090Val
ENST00000338581.10:c.1028C>T ENSP00000345137.6:p.Ala343Val
ENST00000339598.7:c.1028C>T ENSP00000344521.3:p.Ala343Val
ENST00000402415.7:c.1199C>T ENSP00000383906.3:p.Ala400Val
ENST00000403946.7:c.3269C>T ENSP00000385255.3:p.Ala1090Val
NM_001287489.1:c.3269C>T NP_001274418.1:p.Ala1090Val
NM_004802.3:c.1028C>T NP_004793.2:p.Ala343Val
NM_194248.2:c.3269C>T NP_919224.1:p.Ala1090Val
NM_194322.2:c.1199C>T NP_919303.1:p.Ala400Val
NM_194323.2:c.1028C>T NP_919304.1:p.Ala343Val
XM_005264644.2:c.3314C>T XP_005264701.1:p.Ala1105Val
XM_011533185.1:c.3314C>T XP_011531487.1:p.Ala1105Val
XM_017005338.1:c.3269C>T XP_016860827.1:p.Ala1090Val
NM_001287489.2:c.3269C>T NP_001274418.1:p.Ala1090Val
NM_004802.4:c.1028C>T NP_004793.2:p.Ala343Val
NM_194248.3:c.3269C>T MANE Select NP_919224.1:p.Ala1090Val
NM_194322.3:c.1199C>T NP_919303.1:p.Ala400Val
NM_194323.3:c.1028C>T MANE Plus Clinical NP_919304.1:p.Ala343Val
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