Canonical Allele Identifier: CA346112457

Gene: OTOF

Linked Data

• dbSNP Id: rs1665235664
• gnomAD v4: 2-26475927-C-T
• MyVariant Identifiers: chr2:g.26698795C>T (hg19) ; chr2:g.26475927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475927C>T , CM000664.2:g.26475927C>T	GRCh38
NC_000002.11:g.26698795C>T , CM000664.1:g.26698795C>T	GRCh37
NC_000002.10:g.26552299C>T	NCBI36
NG_009937.1:g.87772G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.2978G>A MANE Select	ENSP00000272371.2:p.Ser993Asn
ENST00000339598.8:c.737G>A MANE Plus Clinical	ENSP00000344521.3:p.Ser246Asn
ENST00000402415.8:c.737G>A	ENSP00000383906.4:p.Ser246Asn
ENST00000272371.6:c.2978G>A	ENSP00000272371.2:p.Ser993Asn
ENST00000338581.10:c.737G>A	ENSP00000345137.6:p.Ser246Asn
ENST00000339598.7:c.737G>A	ENSP00000344521.3:p.Ser246Asn
ENST00000402415.7:c.908G>A	ENSP00000383906.3:p.Ser303Asn
ENST00000403946.7:c.2978G>A	ENSP00000385255.3:p.Ser993Asn
NM_001287489.1:c.2978G>A	NP_001274418.1:p.Ser993Asn
NM_004802.3:c.737G>A	NP_004793.2:p.Ser246Asn
NM_194248.2:c.2978G>A	NP_919224.1:p.Ser993Asn
NM_194322.2:c.908G>A	NP_919303.1:p.Ser303Asn
NM_194323.2:c.737G>A	NP_919304.1:p.Ser246Asn
XM_005264644.2:c.3023G>A	XP_005264701.1:p.Ser1008Asn
XM_011533185.1:c.3023G>A	XP_011531487.1:p.Ser1008Asn
XM_017005338.1:c.2978G>A	XP_016860827.1:p.Ser993Asn
NM_001287489.2:c.2978G>A	NP_001274418.1:p.Ser993Asn
NM_004802.4:c.737G>A	NP_004793.2:p.Ser246Asn
NM_194248.3:c.2978G>A MANE Select	NP_919224.1:p.Ser993Asn
NM_194322.3:c.908G>A	NP_919303.1:p.Ser303Asn
NM_194323.3:c.737G>A MANE Plus Clinical	NP_919304.1:p.Ser246Asn