Canonical Allele Identifier: CA2499222645

Gene: OTX2

Linked Data

• ClinVar Variation Id: 1213868
• ClinVar RCV Id: RCV001591810
• dbSNP Id: rs2139528052

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801932del , CM000676.2:g.56801932del	GRCh38
NC_000014.8:g.57268650del , CM000676.1:g.57268650del	GRCh37
NC_000014.7:g.56338403del	NCBI36
NG_008204.1:g.13536del
NG_008204.2:g.19763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.698del	ENSP00000451357.2:p.Asn233MetfsTer?
ENST00000555804.2:c.674del	ENSP00000451272.2:p.Asn225MetfsTer?
ENST00000685244.1:c.674del	ENSP00000508798.1:p.Asn225MetfsTer?
ENST00000339475.10:c.674del	ENSP00000343819.5:p.Asn225MetfsTer?
ENST00000408990.8:c.674del	ENSP00000386185.3:p.Asn225MetfsTer?
ENST00000672125.1:c.361-50del	ENSP00000500744.1:n.361-50del
ENST00000672264.2:c.698del MANE Select	ENSP00000500115.1:p.Asn233MetfsTer?
ENST00000673035.1:c.674del	ENSP00000500061.1:p.Asn225MetfsTer?
ENST00000673481.1:c.698del	ENSP00000500595.1:p.Asn233MetfsTer?
ENST00000339475.9:c.698del	ENSP00000343819.4:p.Asn233MetfsTer?
ENST00000408990.7:c.674del	ENSP00000386185.3:p.Asn225MetfsTer?
ENST00000554788.5:c.*414del	ENSP00000474486.1:n.*414del
ENST00000554845.1:c.698del	ENSP00000451357.1:p.Asn233MetfsTer?
ENST00000555006.5:c.674del	ENSP00000452336.1:p.Asn225MetfsTer?
NM_001270523.1:c.674del	NP_001257452.1:p.Asn225MetfsTer?
NM_001270524.1:c.674del	NP_001257453.1:p.Asn225MetfsTer?
NM_001270525.1:c.698del	NP_001257454.1:p.Asn233MetfsTer?
NM_021728.3:c.698del	NP_068374.1:p.Asn233MetfsTer?
NM_172337.2:c.674del	NP_758840.1:p.Asn225MetfsTer?
NR_073034.1:n.806del
NR_073036.1:n.729del
NM_001270523.2:c.674del	NP_001257452.1:p.Asn225MetfsTer?
NM_001270524.2:c.674del	NP_001257453.1:p.Asn225MetfsTer?
NM_001270525.2:c.698del	NP_001257454.1:p.Asn233MetfsTer?
NM_021728.4:c.698del MANE Select	NP_068374.1:p.Asn233MetfsTer?
NM_172337.3:c.674del	NP_758840.1:p.Asn225MetfsTer?
NR_073034.2:n.809del
NR_073036.2:n.733del