Canonical Allele Identifier: CA1562661

Gene: OTOF

Linked Data

• ClinVar Variation Id: 1497506
• ClinVar RCV Id: RCV001996114 ; RCV002479715
• dbSNP Id: rs754090877
• ExAC: 2:26682984 T / C
• gnomAD v2: 2-26682984-T-C
• gnomAD v3: 2-26460116-T-C
• gnomAD v4: 2-26460116-T-C
• MyVariant Identifiers: chr2:g.26682984T>C (hg19) ; chr2:g.26460116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460116T>C , CM000664.2:g.26460116T>C	GRCh38
NC_000002.11:g.26682984T>C , CM000664.1:g.26682984T>C	GRCh37
NC_000002.10:g.26536488T>C	NCBI36
NG_009937.1:g.103583A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.5903A>G MANE Select	ENSP00000272371.2:p.Lys1968Arg
ENST00000339598.8:c.3512+531A>G MANE Plus Clinical	ENSP00000344521.3:n.3512+531A>G
ENST00000402415.8:c.3662A>G	ENSP00000383906.4:p.Lys1221Arg
ENST00000272371.6:c.5903A>G	ENSP00000272371.2:p.Lys1968Arg
ENST00000338581.10:c.3602A>G	ENSP00000345137.6:p.Lys1201Arg
ENST00000339598.7:c.3512+531A>G	ENSP00000344521.3:n.3512+531A>G
ENST00000402415.7:c.3833A>G	ENSP00000383906.3:p.Lys1278Arg
ENST00000403946.7:c.5813+531A>G	ENSP00000385255.3:n.5813+531A>G
NM_001287489.1:c.5813+531A>G	NP_001274418.1:n.5813+531A>G
NM_004802.3:c.3602A>G	NP_004793.2:p.Lys1201Arg
NM_194248.2:c.5903A>G	NP_919224.1:p.Lys1968Arg
NM_194322.2:c.3833A>G	NP_919303.1:p.Lys1278Arg
NM_194323.2:c.3512+531A>G	NP_919304.1:n.3512+531A>G
XM_005264644.2:c.5798+531A>G	XP_005264701.1:n.5798+531A>G
XM_011533185.1:c.5858+531A>G	XP_011531487.1:n.5858+531A>G
XM_017005338.1:c.5843A>G	XP_016860827.1:p.Lys1948Arg
NM_001287489.2:c.5813+531A>G	NP_001274418.1:n.5813+531A>G
NM_004802.4:c.3602A>G	NP_004793.2:p.Lys1201Arg
NM_194248.3:c.5903A>G MANE Select	NP_919224.1:p.Lys1968Arg
NM_194322.3:c.3833A>G	NP_919303.1:p.Lys1278Arg
NM_194323.3:c.3512+531A>G MANE Plus Clinical	NP_919304.1:n.3512+531A>G