Canonical Allele Identifier: CA142832

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48209
• ClinVar RCV Id: RCV000041513 ; RCV000992476 ; RCV001139127 ; RCV003924990
• dbSNP Id: rs140613217
• ExAC: 2:26698865 G / A
• gnomAD v2: 2-26698865-G-A
• gnomAD v3: 2-26475997-G-A
• gnomAD v4: 2-26475997-G-A
• MyVariant Identifiers: chr2:g.26698865G>A (hg19) ; chr2:g.26475997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475997G>A , CM000664.2:g.26475997G>A	GRCh38
NC_000002.11:g.26698865G>A , CM000664.1:g.26698865G>A	GRCh37
NC_000002.10:g.26552369G>A	NCBI36
NG_009937.1:g.87702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2908C>T MANE Select	ENSP00000272371.2:p.Arg970Cys
ENST00000339598.8:c.667C>T MANE Plus Clinical	ENSP00000344521.3:p.Arg223Cys
ENST00000402415.8:c.667C>T	ENSP00000383906.4:p.Arg223Cys
ENST00000272371.6:c.2908C>T	ENSP00000272371.2:p.Arg970Cys
ENST00000338581.10:c.667C>T	ENSP00000345137.6:p.Arg223Cys
ENST00000339598.7:c.667C>T	ENSP00000344521.3:p.Arg223Cys
ENST00000402415.7:c.838C>T	ENSP00000383906.3:p.Arg280Cys
ENST00000403946.7:c.2908C>T	ENSP00000385255.3:p.Arg970Cys
NM_001287489.1:c.2908C>T	NP_001274418.1:p.Arg970Cys
NM_004802.3:c.667C>T	NP_004793.2:p.Arg223Cys
NM_194248.2:c.2908C>T	NP_919224.1:p.Arg970Cys
NM_194322.2:c.838C>T	NP_919303.1:p.Arg280Cys
NM_194323.2:c.667C>T	NP_919304.1:p.Arg223Cys
XM_005264644.2:c.2953C>T	XP_005264701.1:p.Arg985Cys
XM_011533185.1:c.2953C>T	XP_011531487.1:p.Arg985Cys
XM_017005338.1:c.2908C>T	XP_016860827.1:p.Arg970Cys
NM_001287489.2:c.2908C>T	NP_001274418.1:p.Arg970Cys
NM_004802.4:c.667C>T	NP_004793.2:p.Arg223Cys
NM_194248.3:c.2908C>T MANE Select	NP_919224.1:p.Arg970Cys
NM_194322.3:c.838C>T	NP_919303.1:p.Arg280Cys
NM_194323.3:c.667C>T MANE Plus Clinical	NP_919304.1:p.Arg223Cys