Canonical Allele Identifier: CA212844
Gene: OTOF HGNC NCBI

Linked Data

ClinVar Variation Id: 6136
ClinVar RCV Id: RCV000006510 RCV000021073 RCV003480023
dbSNP Id: rs80356605
ExAC: 2:26683071 C / T
gnomAD v2: 2-26683071-C-T
gnomAD v3: 2-26460203-C-T
gnomAD v4: 2-26460203-C-T
MyVariant Identifiers: chr2:g.26683071C>T (hg19) chr2:g.26460203C>T (hg38)
PubMed: PMID:12525542 PMID:20301429 PMID:22575033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26460203C>T , CM000664.2:g.26460203C>T GRCh38
NC_000002.11:g.26683071C>T , CM000664.1:g.26683071C>T GRCh37
NC_000002.10:g.26536575C>T NCBI36
NG_009937.1:g.103496G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272371.7:c.5816G>A MANE Select ENSP00000272371.2:p.Arg1939Gln
ENST00000339598.8:c.3512+444G>A MANE Plus Clinical ENSP00000344521.3:n.3512+444G>A
ENST00000402415.8:c.3575G>A ENSP00000383906.4:p.Arg1192Gln
ENST00000272371.6:c.5816G>A ENSP00000272371.2:p.Arg1939Gln
ENST00000338581.10:c.3515G>A ENSP00000345137.6:p.Arg1172Gln
ENST00000339598.7:c.3512+444G>A ENSP00000344521.3:n.3512+444G>A
ENST00000402415.7:c.3746G>A ENSP00000383906.3:p.Arg1249Gln
ENST00000403946.7:c.5813+444G>A ENSP00000385255.3:n.5813+444G>A
NM_001287489.1:c.5813+444G>A NP_001274418.1:n.5813+444G>A
NM_004802.3:c.3515G>A NP_004793.2:p.Arg1172Gln
NM_194248.2:c.5816G>A NP_919224.1:p.Arg1939Gln
NM_194322.2:c.3746G>A NP_919303.1:p.Arg1249Gln
NM_194323.2:c.3512+444G>A NP_919304.1:n.3512+444G>A
XM_005264644.2:c.5798+444G>A XP_005264701.1:n.5798+444G>A
XM_011533185.1:c.5858+444G>A XP_011531487.1:n.5858+444G>A
XM_017005338.1:c.5756G>A XP_016860827.1:p.Arg1919Gln
NM_001287489.2:c.5813+444G>A NP_001274418.1:n.5813+444G>A
NM_004802.4:c.3515G>A NP_004793.2:p.Arg1172Gln
NM_194248.3:c.5816G>A MANE Select NP_919224.1:p.Arg1939Gln
NM_194322.3:c.3746G>A NP_919303.1:p.Arg1249Gln
NM_194323.3:c.3512+444G>A MANE Plus Clinical NP_919304.1:n.3512+444G>A
Search 100 bp 5'
Search 100 bp 3'