Canonical Allele Identifier: CA142877

Gene: OTOF

Linked Data

• ClinVar Variation Id: 21848
• ClinVar RCV Id: RCV000021060 ; RCV000041537 ; RCV000514025
• dbSNP Id: rs80356576
• ExAC: 2:26693518 G / C
• gnomAD v2: 2-26693518-G-C
• gnomAD v3: 2-26470650-G-C
• gnomAD v4: 2-26470650-G-C
• MyVariant Identifiers: chr2:g.26693518G>C (hg19) ; chr2:g.26470650G>C (hg38)
• PubMed: PMID:16371502 ; PMID:20301429

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26470650G>C , CM000664.2:g.26470650G>C	GRCh38
NC_000002.11:g.26693518G>C , CM000664.1:g.26693518G>C	GRCh37
NC_000002.10:g.26547022G>C	NCBI36
NG_009937.1:g.93049C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.3966C>G MANE Select	ENSP00000272371.2:p.Asp1322Glu
ENST00000339598.8:c.1665C>G MANE Plus Clinical	ENSP00000344521.3:p.Asp555Glu
ENST00000402415.8:c.1725C>G	ENSP00000383906.4:p.Asp575Glu
ENST00000272371.6:c.3966C>G	ENSP00000272371.2:p.Asp1322Glu
ENST00000338581.10:c.1665C>G	ENSP00000345137.6:p.Asp555Glu
ENST00000339598.7:c.1665C>G	ENSP00000344521.3:p.Asp555Glu
ENST00000402415.7:c.1896C>G	ENSP00000383906.3:p.Asp632Glu
ENST00000403946.7:c.3966C>G	ENSP00000385255.3:p.Asp1322Glu
NM_001287489.1:c.3966C>G	NP_001274418.1:p.Asp1322Glu
NM_004802.3:c.1665C>G	NP_004793.2:p.Asp555Glu
NM_194248.2:c.3966C>G	NP_919224.1:p.Asp1322Glu
NM_194322.2:c.1896C>G	NP_919303.1:p.Asp632Glu
NM_194323.2:c.1665C>G	NP_919304.1:p.Asp555Glu
XM_005264644.2:c.3951C>G	XP_005264701.1:p.Asp1317Glu
XM_011533185.1:c.4011C>G	XP_011531487.1:p.Asp1337Glu
XM_017005338.1:c.3906C>G	XP_016860827.1:p.Asp1302Glu
NM_001287489.2:c.3966C>G	NP_001274418.1:p.Asp1322Glu
NM_004802.4:c.1665C>G	NP_004793.2:p.Asp555Glu
NM_194248.3:c.3966C>G MANE Select	NP_919224.1:p.Asp1322Glu
NM_194322.3:c.1896C>G	NP_919303.1:p.Asp632Glu
NM_194323.3:c.1665C>G MANE Plus Clinical	NP_919304.1:p.Asp555Glu