Canonical Allele Identifier: CA1562666

Gene: OTOF

Linked Data

• ClinVar Variation Id: 666733
• ClinVar RCV Id: RCV000825210
• dbSNP Id: rs779578562
• ExAC: 2:26683005 G / A
• gnomAD v2: 2-26683005-G-A
• gnomAD v4: 2-26460137-G-A
• COSMIC: COSM3713756 ; COSM3713757
• MyVariant Identifiers: chr2:g.26683005G>A (hg19) ; chr2:g.26460137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26460137G>A , CM000664.2:g.26460137G>A	GRCh38
NC_000002.11:g.26683005G>A , CM000664.1:g.26683005G>A	GRCh37
NC_000002.10:g.26536509G>A	NCBI36
NG_009937.1:g.103562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.5882C>T MANE Select	ENSP00000272371.2:p.Thr1961Met
ENST00000339598.8:c.3512+510C>T MANE Plus Clinical	ENSP00000344521.3:n.3512+510C>T
ENST00000402415.8:c.3641C>T	ENSP00000383906.4:p.Thr1214Met
ENST00000272371.6:c.5882C>T	ENSP00000272371.2:p.Thr1961Met
ENST00000338581.10:c.3581C>T	ENSP00000345137.6:p.Thr1194Met
ENST00000339598.7:c.3512+510C>T	ENSP00000344521.3:n.3512+510C>T
ENST00000402415.7:c.3812C>T	ENSP00000383906.3:p.Thr1271Met
ENST00000403946.7:c.5813+510C>T	ENSP00000385255.3:n.5813+510C>T
NM_001287489.1:c.5813+510C>T	NP_001274418.1:n.5813+510C>T
NM_004802.3:c.3581C>T	NP_004793.2:p.Thr1194Met
NM_194248.2:c.5882C>T	NP_919224.1:p.Thr1961Met
NM_194322.2:c.3812C>T	NP_919303.1:p.Thr1271Met
NM_194323.2:c.3512+510C>T	NP_919304.1:n.3512+510C>T
XM_005264644.2:c.5798+510C>T	XP_005264701.1:n.5798+510C>T
XM_011533185.1:c.5858+510C>T	XP_011531487.1:n.5858+510C>T
XM_017005338.1:c.5822C>T	XP_016860827.1:p.Thr1941Met
NM_001287489.2:c.5813+510C>T	NP_001274418.1:n.5813+510C>T
NM_004802.4:c.3581C>T	NP_004793.2:p.Thr1194Met
NM_194248.3:c.5882C>T MANE Select	NP_919224.1:p.Thr1961Met
NM_194322.3:c.3812C>T	NP_919303.1:p.Thr1271Met
NM_194323.3:c.3512+510C>T MANE Plus Clinical	NP_919304.1:n.3512+510C>T