Canonical Allele Identifier: CA142758

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48177
• ClinVar RCV Id: RCV000041468 ; RCV002477132 ; RCV003223609 ; RCV004018913
• dbSNP Id: rs397517934
• ExAC: 2:26703754 C / T
• gnomAD v2: 2-26703754-C-T
• gnomAD v3: 2-26480886-C-T
• gnomAD v4: 2-26480886-C-T
• MyVariant Identifiers: chr2:g.26703754C>T (hg19) ; chr2:g.26703754_26703755delinsTG (hg19) ; chr2:g.26480886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26480886C>T , CM000664.2:g.26480886C>T	GRCh38
NC_000002.11:g.26703754C>T , CM000664.1:g.26703754C>T	GRCh37
NC_000002.10:g.26557258C>T	NCBI36
NG_009937.1:g.82813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.1703G>A MANE Select	ENSP00000272371.2:p.Arg568Gln
ENST00000272371.6:c.1703G>A	ENSP00000272371.2:p.Arg568Gln
ENST00000403946.7:c.1703G>A	ENSP00000385255.3:p.Arg568Gln
NM_001287489.1:c.1703G>A	NP_001274418.1:p.Arg568Gln
NM_194248.2:c.1703G>A	NP_919224.1:p.Arg568Gln
XM_005264644.2:c.1748G>A	XP_005264701.1:p.Arg583Gln
XM_011533185.1:c.1748G>A	XP_011531487.1:p.Arg583Gln
XM_017005338.1:c.1703G>A	XP_016860827.1:p.Arg568Gln
NM_001287489.2:c.1703G>A	NP_001274418.1:p.Arg568Gln
NM_194248.3:c.1703G>A MANE Select	NP_919224.1:p.Arg568Gln