Canonical Allele Identifier: CA345132

Gene: OTOF

Linked Data

• ClinVar Variation Id: 48253
• ClinVar RCV Id: RCV000056047 ; RCV000211734 ; RCV000413616 ; RCV002228134 ; RCV003984816 ; RCV004017335
• dbSNP Id: rs199766465
• ExAC: 2:26686837 C / G
• gnomAD v2: 2-26686837-C-G
• gnomAD v3: 2-26463969-C-G
• gnomAD v4: 2-26463969-C-G
• MyVariant Identifiers: chr2:g.26686837C>G (hg19) ; chr2:g.26463969C>G (hg38)
• PubMed: PMID:20224275 ; PMID:20301429
• ERepo: CA345132/MONDO:0019497/005

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26463969C>G , CM000664.2:g.26463969C>G	GRCh38
NC_000002.11:g.26686837C>G , CM000664.1:g.26686837C>G	GRCh37
NC_000002.10:g.26540341C>G	NCBI36
NG_009937.1:g.99730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5098G>C MANE Select	ENSP00000272371.2:p.Glu1700Gln
ENST00000339598.8:c.2797G>C MANE Plus Clinical	ENSP00000344521.3:p.Glu933Gln
ENST00000402415.8:c.2857G>C	ENSP00000383906.4:p.Glu953Gln
ENST00000272371.6:c.5098G>C	ENSP00000272371.2:p.Glu1700Gln
ENST00000338581.10:c.2797G>C	ENSP00000345137.6:p.Glu933Gln
ENST00000339598.7:c.2797G>C	ENSP00000344521.3:p.Glu933Gln
ENST00000402415.7:c.3028G>C	ENSP00000383906.3:p.Glu1010Gln
ENST00000403946.7:c.5098G>C	ENSP00000385255.3:p.Glu1700Gln
ENST00000464574.1:n.847G>C
NM_001287489.1:c.5098G>C	NP_001274418.1:p.Glu1700Gln
NM_004802.3:c.2797G>C	NP_004793.2:p.Glu933Gln
NM_194248.2:c.5098G>C	NP_919224.1:p.Glu1700Gln
NM_194322.2:c.3028G>C	NP_919303.1:p.Glu1010Gln
NM_194323.2:c.2797G>C	NP_919304.1:p.Glu933Gln
XM_005264644.2:c.5083G>C	XP_005264701.1:p.Glu1695Gln
XM_011533185.1:c.5143G>C	XP_011531487.1:p.Glu1715Gln
XM_017005338.1:c.5038G>C	XP_016860827.1:p.Glu1680Gln
NM_001287489.2:c.5098G>C	NP_001274418.1:p.Glu1700Gln
NM_004802.4:c.2797G>C	NP_004793.2:p.Glu933Gln
NM_194248.3:c.5098G>C MANE Select	NP_919224.1:p.Glu1700Gln
NM_194322.3:c.3028G>C	NP_919303.1:p.Glu1010Gln
NM_194323.3:c.2797G>C MANE Plus Clinical	NP_919304.1:p.Glu933Gln