Canonical Allele Identifier: CA1563275

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2878339
• ClinVar RCV Id: RCV003707597
• dbSNP Id: rs753311693
• ExAC: 2:26690322 C / T
• gnomAD v2: 2-26690322-C-T
• gnomAD v3: 2-26467454-C-T
• gnomAD v4: 2-26467454-C-T
• MyVariant Identifiers: chr2:g.26690322C>T (hg19) ; chr2:g.26467454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26467454C>T , CM000664.2:g.26467454C>T	GRCh38
NC_000002.11:g.26690322C>T , CM000664.1:g.26690322C>T	GRCh37
NC_000002.10:g.26543826C>T	NCBI36
NG_009937.1:g.96245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.4138G>A MANE Select	ENSP00000272371.2:p.Glu1380Lys
ENST00000339598.8:c.1837G>A MANE Plus Clinical	ENSP00000344521.3:p.Glu613Lys
ENST00000402415.8:c.1897G>A	ENSP00000383906.4:p.Glu633Lys
ENST00000272371.6:c.4138G>A	ENSP00000272371.2:p.Glu1380Lys
ENST00000338581.10:c.1837G>A	ENSP00000345137.6:p.Glu613Lys
ENST00000339598.7:c.1837G>A	ENSP00000344521.3:p.Glu613Lys
ENST00000402415.7:c.2068G>A	ENSP00000383906.3:p.Glu690Lys
ENST00000403946.7:c.4138G>A	ENSP00000385255.3:p.Glu1380Lys
NM_001287489.1:c.4138G>A	NP_001274418.1:p.Glu1380Lys
NM_004802.3:c.1837G>A	NP_004793.2:p.Glu613Lys
NM_194248.2:c.4138G>A	NP_919224.1:p.Glu1380Lys
NM_194322.2:c.2068G>A	NP_919303.1:p.Glu690Lys
NM_194323.2:c.1837G>A	NP_919304.1:p.Glu613Lys
XM_005264644.2:c.4123G>A	XP_005264701.1:p.Glu1375Lys
XM_011533185.1:c.4183G>A	XP_011531487.1:p.Glu1395Lys
XM_017005338.1:c.4078G>A	XP_016860827.1:p.Glu1360Lys
NM_001287489.2:c.4138G>A	NP_001274418.1:p.Glu1380Lys
NM_004802.4:c.1837G>A	NP_004793.2:p.Glu613Lys
NM_194248.3:c.4138G>A MANE Select	NP_919224.1:p.Glu1380Lys
NM_194322.3:c.2068G>A	NP_919303.1:p.Glu690Lys
NM_194323.3:c.1837G>A MANE Plus Clinical	NP_919304.1:p.Glu613Lys