Canonical Allele Identifier: CA390051448

Gene: OTX2

Linked Data

• ClinVar Variation Id: 945360
• ClinVar RCV Id: RCV001215981
• dbSNP Id: rs1891900408
• MyVariant Identifiers: chr14:g.57268715G>T (hg19) ; chr14:g.56801997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801997G>T , CM000676.2:g.56801997G>T	GRCh38
NC_000014.8:g.57268715G>T , CM000676.1:g.57268715G>T	GRCh37
NC_000014.7:g.56338468G>T	NCBI36
NG_008204.1:g.13470C>A
NG_008204.2:g.19697C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.632C>A	ENSP00000451357.2:p.Ser211Ter
ENST00000555804.2:c.608C>A	ENSP00000451272.2:p.Ser203Ter
ENST00000685244.1:c.608C>A	ENSP00000508798.1:p.Ser203Ter
ENST00000339475.10:c.608C>A	ENSP00000343819.5:p.Ser203Ter
ENST00000408990.8:c.608C>A	ENSP00000386185.3:p.Ser203Ter
ENST00000672125.1:c.361-116C>A	ENSP00000500744.1:n.361-116C>A
ENST00000672264.2:c.632C>A MANE Select	ENSP00000500115.1:p.Ser211Ter
ENST00000673035.1:c.608C>A	ENSP00000500061.1:p.Ser203Ter
ENST00000673481.1:c.632C>A	ENSP00000500595.1:p.Ser211Ter
ENST00000339475.9:c.632C>A	ENSP00000343819.4:p.Ser211Ter
ENST00000408990.7:c.608C>A	ENSP00000386185.3:p.Ser203Ter
ENST00000554788.5:c.*348C>A	ENSP00000474486.1:n.*348C>A
ENST00000554845.1:c.632C>A	ENSP00000451357.1:p.Ser211Ter
ENST00000555006.5:c.608C>A	ENSP00000452336.1:p.Ser203Ter
NM_001270523.1:c.608C>A	NP_001257452.1:p.Ser203Ter
NM_001270524.1:c.608C>A	NP_001257453.1:p.Ser203Ter
NM_001270525.1:c.632C>A	NP_001257454.1:p.Ser211Ter
NM_021728.3:c.632C>A	NP_068374.1:p.Ser211Ter
NM_172337.2:c.608C>A	NP_758840.1:p.Ser203Ter
NR_073034.1:n.740C>A
NR_073036.1:n.663C>A
NM_001270523.2:c.608C>A	NP_001257452.1:p.Ser203Ter
NM_001270524.2:c.608C>A	NP_001257453.1:p.Ser203Ter
NM_001270525.2:c.632C>A	NP_001257454.1:p.Ser211Ter
NM_021728.4:c.632C>A MANE Select	NP_068374.1:p.Ser211Ter
NM_172337.3:c.608C>A	NP_758840.1:p.Ser203Ter
NR_073034.2:n.743C>A
NR_073036.2:n.667C>A