Canonical Allele Identifier: CA1563066

Gene: OTOF

Linked Data

• dbSNP Id: rs775614414
• ExAC: 2:26688623 G / T
• gnomAD v2: 2-26688623-G-T
• gnomAD v4: 2-26465755-G-T
• COSMIC: COSM1019380 ; COSM1019381 ; COSM1592052
• MyVariant Identifiers: chr2:g.26688623G>T (hg19) ; chr2:g.26465755G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26465755G>T , CM000664.2:g.26465755G>T	GRCh38
NC_000002.11:g.26688623G>T , CM000664.1:g.26688623G>T	GRCh37
NC_000002.10:g.26542127G>T	NCBI36
NG_009937.1:g.97944C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.4716C>A MANE Select	ENSP00000272371.2:p.Leu1572=
ENST00000339598.8:c.2415C>A MANE Plus Clinical	ENSP00000344521.3:p.Leu805=
ENST00000402415.8:c.2475C>A	ENSP00000383906.4:p.Leu825=
ENST00000272371.6:c.4716C>A	ENSP00000272371.2:p.Leu1572=
ENST00000338581.10:c.2415C>A	ENSP00000345137.6:p.Leu805=
ENST00000339598.7:c.2415C>A	ENSP00000344521.3:p.Leu805=
ENST00000402415.7:c.2646C>A	ENSP00000383906.3:p.Leu882=
ENST00000403946.7:c.4716C>A	ENSP00000385255.3:p.Leu1572=
ENST00000464574.1:n.465C>A
NM_001287489.1:c.4716C>A	NP_001274418.1:p.Leu1572=
NM_004802.3:c.2415C>A	NP_004793.2:p.Leu805=
NM_194248.2:c.4716C>A	NP_919224.1:p.Leu1572=
NM_194322.2:c.2646C>A	NP_919303.1:p.Leu882=
NM_194323.2:c.2415C>A	NP_919304.1:p.Leu805=
XM_005264644.2:c.4701C>A	XP_005264701.1:p.Leu1567=
XM_011533185.1:c.4761C>A	XP_011531487.1:p.Leu1587=
XM_017005338.1:c.4656C>A	XP_016860827.1:p.Leu1552=
NM_001287489.2:c.4716C>A	NP_001274418.1:p.Leu1572=
NM_004802.4:c.2415C>A	NP_004793.2:p.Leu805=
NM_194248.3:c.4716C>A MANE Select	NP_919224.1:p.Leu1572=
NM_194322.3:c.2646C>A	NP_919303.1:p.Leu882=
NM_194323.3:c.2415C>A MANE Plus Clinical	NP_919304.1:p.Leu805=