Canonical Allele Identifier: CA177545

Gene: OTOF

Linked Data

• ClinVar Variation Id: 164845
• ClinVar RCV Id: RCV000151598 ; RCV001850069
• dbSNP Id: rs727503355
• ExAC: 2:26689987 G / A
• gnomAD v2: 2-26689987-G-A
• gnomAD v3: 2-26467119-G-A
• gnomAD v4: 2-26467119-G-A
• MyVariant Identifiers: chr2:g.26689987G>A (hg19) ; chr2:g.26467119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467119G>A , CM000664.2:g.26467119G>A	GRCh38
NC_000002.11:g.26689987G>A , CM000664.1:g.26689987G>A	GRCh37
NC_000002.10:g.26543491G>A	NCBI36
NG_009937.1:g.96580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4342C>T MANE Select	ENSP00000272371.2:p.Arg1448Cys
ENST00000339598.8:c.2041C>T MANE Plus Clinical	ENSP00000344521.3:p.Arg681Cys
ENST00000402415.8:c.2101C>T	ENSP00000383906.4:p.Arg701Cys
ENST00000272371.6:c.4342C>T	ENSP00000272371.2:p.Arg1448Cys
ENST00000338581.10:c.2041C>T	ENSP00000345137.6:p.Arg681Cys
ENST00000339598.7:c.2041C>T	ENSP00000344521.3:p.Arg681Cys
ENST00000402415.7:c.2272C>T	ENSP00000383906.3:p.Arg758Cys
ENST00000403946.7:c.4342C>T	ENSP00000385255.3:p.Arg1448Cys
NM_001287489.1:c.4342C>T	NP_001274418.1:p.Arg1448Cys
NM_004802.3:c.2041C>T	NP_004793.2:p.Arg681Cys
NM_194248.2:c.4342C>T	NP_919224.1:p.Arg1448Cys
NM_194322.2:c.2272C>T	NP_919303.1:p.Arg758Cys
NM_194323.2:c.2041C>T	NP_919304.1:p.Arg681Cys
XM_005264644.2:c.4327C>T	XP_005264701.1:p.Arg1443Cys
XM_011533185.1:c.4387C>T	XP_011531487.1:p.Arg1463Cys
XM_017005338.1:c.4282C>T	XP_016860827.1:p.Arg1428Cys
NM_001287489.2:c.4342C>T	NP_001274418.1:p.Arg1448Cys
NM_004802.4:c.2041C>T	NP_004793.2:p.Arg681Cys
NM_194248.3:c.4342C>T MANE Select	NP_919224.1:p.Arg1448Cys
NM_194322.3:c.2272C>T	NP_919303.1:p.Arg758Cys
NM_194323.3:c.2041C>T MANE Plus Clinical	NP_919304.1:p.Arg681Cys