Canonical Allele Identifier: CA390051147

Gene: OTX2

Linked Data

• ClinVar Variation Id: 1403565
• ClinVar RCV Id: RCV001925395
• dbSNP Id: rs2139527790
• MyVariant Identifiers: chr14:g.57268569A>C (hg19) ; chr14:g.56801851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801851A>C , CM000676.2:g.56801851A>C	GRCh38
NC_000014.8:g.57268569A>C , CM000676.1:g.57268569A>C	GRCh37
NC_000014.7:g.56338322A>C	NCBI36
NG_008204.1:g.13616T>G
NG_008204.2:g.19843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.778T>G	ENSP00000451357.2:p.Ser260Ala
ENST00000555804.2:c.754T>G	ENSP00000451272.2:p.Ser252Ala
ENST00000685244.1:c.754T>G	ENSP00000508798.1:p.Ser252Ala
ENST00000339475.10:c.754T>G	ENSP00000343819.5:p.Ser252Ala
ENST00000408990.8:c.754T>G	ENSP00000386185.3:p.Ser252Ala
ENST00000672125.1:c.391T>G	ENSP00000500744.1:p.Ser131Ala
ENST00000672264.2:c.778T>G MANE Select	ENSP00000500115.1:p.Ser260Ala
ENST00000673035.1:c.754T>G	ENSP00000500061.1:p.Ser252Ala
ENST00000673481.1:c.778T>G	ENSP00000500595.1:p.Ser260Ala
ENST00000339475.9:c.778T>G	ENSP00000343819.4:p.Ser260Ala
ENST00000408990.7:c.754T>G	ENSP00000386185.3:p.Ser252Ala
ENST00000554788.5:c.*494T>G	ENSP00000474486.1:n.*494T>G
ENST00000555006.5:c.754T>G	ENSP00000452336.1:p.Ser252Ala
NM_001270523.1:c.754T>G	NP_001257452.1:p.Ser252Ala
NM_001270524.1:c.754T>G	NP_001257453.1:p.Ser252Ala
NM_001270525.1:c.778T>G	NP_001257454.1:p.Ser260Ala
NM_021728.3:c.778T>G	NP_068374.1:p.Ser260Ala
NM_172337.2:c.754T>G	NP_758840.1:p.Ser252Ala
NR_073034.1:n.886T>G
NR_073036.1:n.809T>G
NM_001270523.2:c.754T>G	NP_001257452.1:p.Ser252Ala
NM_001270524.2:c.754T>G	NP_001257453.1:p.Ser252Ala
NM_001270525.2:c.778T>G	NP_001257454.1:p.Ser260Ala
NM_021728.4:c.778T>G MANE Select	NP_068374.1:p.Ser260Ala
NM_172337.3:c.754T>G	NP_758840.1:p.Ser252Ala
NR_073034.2:n.889T>G
NR_073036.2:n.813T>G