Canonical Allele Identifier: CA658798215

Gene: OTX2

Linked Data

• ClinVar Variation Id: 500507
• ClinVar RCV Id: RCV000594111 ; RCV000596696 ; RCV003530088
• dbSNP Id: rs1555350223
• MyVariant Identifiers: chr14:g.57268921dup (hg19) ; chr14:g.56802203dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802208dup , CM000676.2:g.56802208dup	GRCh38
NC_000014.8:g.57268926dup , CM000676.1:g.57268926dup	GRCh37
NC_000014.7:g.56338679dup	NCBI36
NG_008204.1:g.13264dup
NG_008204.2:g.19491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.426dup	ENSP00000451357.2:p.Ser143LeufsTer2
ENST00000555804.2:c.402dup	ENSP00000451272.2:p.Ser135LeufsTer2
ENST00000685244.1:c.402dup	ENSP00000508798.1:p.Ser135LeufsTer2
ENST00000339475.10:c.402dup	ENSP00000343819.5:p.Ser135LeufsTer2
ENST00000408990.8:c.402dup	ENSP00000386185.3:p.Ser135LeufsTer2
ENST00000672125.1:c.360+42dup	ENSP00000500744.1:n.360+42dup
ENST00000672264.2:c.426dup MANE Select	ENSP00000500115.1:p.Ser143LeufsTer2
ENST00000673035.1:c.402dup	ENSP00000500061.1:p.Ser135LeufsTer2
ENST00000673481.1:c.426dup	ENSP00000500595.1:p.Ser143LeufsTer2
ENST00000339475.9:c.426dup	ENSP00000343819.4:p.Ser143LeufsTer2
ENST00000408990.7:c.402dup	ENSP00000386185.3:p.Ser135LeufsTer2
ENST00000554559.5:c.*142dup	ENSP00000450468.1:n.*142dup
ENST00000554788.5:c.*142dup	ENSP00000474486.1:n.*142dup
ENST00000554845.1:c.426dup	ENSP00000451357.1:p.Ser143LeufsTer2
ENST00000555006.5:c.402dup	ENSP00000452336.1:p.Ser135LeufsTer2
ENST00000555804.1:c.402dup	ENSP00000451272.1:p.Ser135LeufsTer2
NM_001270523.1:c.402dup	NP_001257452.1:p.Ser135LeufsTer2
NM_001270524.1:c.402dup	NP_001257453.1:p.Ser135LeufsTer2
NM_001270525.1:c.426dup	NP_001257454.1:p.Ser143LeufsTer2
NM_021728.3:c.426dup	NP_068374.1:p.Ser143LeufsTer2
NM_172337.2:c.402dup	NP_758840.1:p.Ser135LeufsTer2
NR_073034.1:n.534dup
NR_073036.1:n.457dup
NM_001270523.2:c.402dup	NP_001257452.1:p.Ser135LeufsTer2
NM_001270524.2:c.402dup	NP_001257453.1:p.Ser135LeufsTer2
NM_001270525.2:c.426dup	NP_001257454.1:p.Ser143LeufsTer2
NM_021728.4:c.426dup MANE Select	NP_068374.1:p.Ser143LeufsTer2
NM_172337.3:c.402dup	NP_758840.1:p.Ser135LeufsTer2
NR_073034.2:n.537dup
NR_073036.2:n.461dup