Canonical Allele Identifier: CA425360115

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2898197
• ClinVar RCV Id: RCV003726275
• dbSNP Id: rs137982529
• gnomAD v2: 2-26700551-G-T
• gnomAD v4: 2-26477683-G-T
• COSMIC: COSM1407291 ; COSM1407292 ; COSM1407293
• MyVariant Identifiers: chr2:g.26700551G>T (hg19) ; chr2:g.26477683G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477683G>T , CM000664.2:g.26477683G>T	GRCh38
NC_000002.11:g.26700551G>T , CM000664.1:g.26700551G>T	GRCh37
NC_000002.10:g.26554055G>T	NCBI36
NG_009937.1:g.86016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2281C>A MANE Select	ENSP00000272371.2:p.Arg761=
ENST00000339598.8:c.40C>A MANE Plus Clinical	ENSP00000344521.3:p.Arg14=
ENST00000402415.8:c.40C>A	ENSP00000383906.4:p.Arg14=
ENST00000272371.6:c.2281C>A	ENSP00000272371.2:p.Arg761=
ENST00000338581.10:c.40C>A	ENSP00000345137.6:p.Arg14=
ENST00000339598.7:c.40C>A	ENSP00000344521.3:p.Arg14=
ENST00000402415.7:c.211C>A	ENSP00000383906.3:p.Arg71=
ENST00000403946.7:c.2281C>A	ENSP00000385255.3:p.Arg761=
NM_001287489.1:c.2281C>A	NP_001274418.1:p.Arg761=
NM_004802.3:c.40C>A	NP_004793.2:p.Arg14=
NM_194248.2:c.2281C>A	NP_919224.1:p.Arg761=
NM_194322.2:c.211C>A	NP_919303.1:p.Arg71=
NM_194323.2:c.40C>A	NP_919304.1:p.Arg14=
XM_005264644.2:c.2326C>A	XP_005264701.1:p.Arg776=
XM_011533185.1:c.2326C>A	XP_011531487.1:p.Arg776=
XM_017005338.1:c.2281C>A	XP_016860827.1:p.Arg761=
NM_001287489.2:c.2281C>A	NP_001274418.1:p.Arg761=
NM_004802.4:c.40C>A	NP_004793.2:p.Arg14=
NM_194248.3:c.2281C>A MANE Select	NP_919224.1:p.Arg761=
NM_194322.3:c.211C>A	NP_919303.1:p.Arg71=
NM_194323.3:c.40C>A MANE Plus Clinical	NP_919304.1:p.Arg14=