Canonical Allele Identifier: CA44398468

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2182237
• ClinVar RCV Id: RCV002610746
• dbSNP Id: rs1028297669
• gnomAD v4: 2-26477430-A-G
• MyVariant Identifiers: chr2:g.26700298A>G (hg19) ; chr2:g.26477430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26477430A>G , CM000664.2:g.26477430A>G	GRCh38
NC_000002.11:g.26700298A>G , CM000664.1:g.26700298A>G	GRCh37
NC_000002.10:g.26553802A>G	NCBI36
NG_009937.1:g.86269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.2392T>C MANE Select	ENSP00000272371.2:p.Cys798Arg
ENST00000339598.8:c.151T>C MANE Plus Clinical	ENSP00000344521.3:p.Cys51Arg
ENST00000402415.8:c.151T>C	ENSP00000383906.4:p.Cys51Arg
ENST00000272371.6:c.2392T>C	ENSP00000272371.2:p.Cys798Arg
ENST00000338581.10:c.151T>C	ENSP00000345137.6:p.Cys51Arg
ENST00000339598.7:c.151T>C	ENSP00000344521.3:p.Cys51Arg
ENST00000402415.7:c.322T>C	ENSP00000383906.3:p.Cys108Arg
ENST00000403946.7:c.2392T>C	ENSP00000385255.3:p.Cys798Arg
NM_001287489.1:c.2392T>C	NP_001274418.1:p.Cys798Arg
NM_004802.3:c.151T>C	NP_004793.2:p.Cys51Arg
NM_194248.2:c.2392T>C	NP_919224.1:p.Cys798Arg
NM_194322.2:c.322T>C	NP_919303.1:p.Cys108Arg
NM_194323.2:c.151T>C	NP_919304.1:p.Cys51Arg
XM_005264644.2:c.2437T>C	XP_005264701.1:p.Cys813Arg
XM_011533185.1:c.2437T>C	XP_011531487.1:p.Cys813Arg
XM_017005338.1:c.2392T>C	XP_016860827.1:p.Cys798Arg
NM_001287489.2:c.2392T>C	NP_001274418.1:p.Cys798Arg
NM_004802.4:c.151T>C	NP_004793.2:p.Cys51Arg
NM_194248.3:c.2392T>C MANE Select	NP_919224.1:p.Cys798Arg
NM_194322.3:c.322T>C	NP_919303.1:p.Cys108Arg
NM_194323.3:c.151T>C MANE Plus Clinical	NP_919304.1:p.Cys51Arg