Canonical Allele Identifier: CA1564742

Gene: OTOF

Linked Data

• ClinVar Variation Id: 2503245
• ClinVar RCV Id: RCV003230079
• dbSNP Id: rs368178451
• ExAC: 2:26741976 G / A
• gnomAD v2: 2-26741976-G-A
• gnomAD v3: 2-26519108-G-A
• gnomAD v4: 2-26519108-G-A
• COSMIC: COSM4171156
• MyVariant Identifiers: chr2:g.26741976G>A (hg19) ; chr2:g.26519108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26519108G>A , CM000664.2:g.26519108G>A	GRCh38
NC_000002.11:g.26741976G>A , CM000664.1:g.26741976G>A	GRCh37
NC_000002.10:g.26595480G>A	NCBI36
NG_009937.1:g.44591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272371.7:c.229C>T MANE Select	ENSP00000272371.2:p.Leu77Phe
ENST00000272371.6:c.229C>T	ENSP00000272371.2:p.Leu77Phe
ENST00000403946.7:c.229C>T	ENSP00000385255.3:p.Leu77Phe
NM_001287489.1:c.229C>T	NP_001274418.1:p.Leu77Phe
NM_194248.2:c.229C>T	NP_919224.1:p.Leu77Phe
XM_005264644.2:c.229C>T	XP_005264701.1:p.Leu77Phe
XM_011533185.1:c.229C>T	XP_011531487.1:p.Leu77Phe
XM_017005338.1:c.229C>T	XP_016860827.1:p.Leu77Phe
NM_001287489.2:c.229C>T	NP_001274418.1:p.Leu77Phe
NM_194248.3:c.229C>T MANE Select	NP_919224.1:p.Leu77Phe