Canonical Allele Identifier: CA2139133823

Gene: OTX2

Linked Data

• ClinVar Variation Id: 1003380
• ClinVar RCV Id: RCV001299926
• dbSNP Id: rs1891889944

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801858dup , CM000676.2:g.56801858dup	GRCh38
NC_000014.8:g.57268576dup , CM000676.1:g.57268576dup	GRCh37
NC_000014.7:g.56338329dup	NCBI36
NG_008204.1:g.13612dup
NG_008204.2:g.19839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.774dup	ENSP00000451357.2:p.Asn259Ter
ENST00000555804.2:c.750dup	ENSP00000451272.2:p.Asn251Ter
ENST00000685244.1:c.750dup	ENSP00000508798.1:p.Asn251Ter
ENST00000339475.10:c.750dup	ENSP00000343819.5:p.Asn251Ter
ENST00000408990.8:c.750dup	ENSP00000386185.3:p.Asn251Ter
ENST00000672125.1:c.387dup	ENSP00000500744.1:p.Asn130Ter
ENST00000672264.2:c.774dup MANE Select	ENSP00000500115.1:p.Asn259Ter
ENST00000673035.1:c.750dup	ENSP00000500061.1:p.Asn251Ter
ENST00000673481.1:c.774dup	ENSP00000500595.1:p.Asn259Ter
ENST00000339475.9:c.774dup	ENSP00000343819.4:p.Asn259Ter
ENST00000408990.7:c.750dup	ENSP00000386185.3:p.Asn251Ter
ENST00000554788.5:c.*490dup	ENSP00000474486.1:n.*490dup
ENST00000555006.5:c.750dup	ENSP00000452336.1:p.Asn251Ter
NM_001270523.1:c.750dup	NP_001257452.1:p.Asn251Ter
NM_001270524.1:c.750dup	NP_001257453.1:p.Asn251Ter
NM_001270525.1:c.774dup	NP_001257454.1:p.Asn259Ter
NM_021728.3:c.774dup	NP_068374.1:p.Asn259Ter
NM_172337.2:c.750dup	NP_758840.1:p.Asn251Ter
NR_073034.1:n.882dup
NR_073036.1:n.805dup
NM_001270523.2:c.750dup	NP_001257452.1:p.Asn251Ter
NM_001270524.2:c.750dup	NP_001257453.1:p.Asn251Ter
NM_001270525.2:c.774dup	NP_001257454.1:p.Asn259Ter
NM_021728.4:c.774dup MANE Select	NP_068374.1:p.Asn259Ter
NM_172337.3:c.750dup	NP_758840.1:p.Asn251Ter
NR_073034.2:n.885dup
NR_073036.2:n.809dup