Canonical Allele Identifier: CA213015

Gene: OTX2

Linked Data

• ClinVar Variation Id: 30025
• ClinVar RCV Id: RCV000022925
• dbSNP Id: rs786205879
• MyVariant Identifiers: chr14:g.57268910G>C (hg19) ; chr14:g.56802192G>C (hg38)
• PubMed: PMID:19956411

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802192G>C , CM000676.2:g.56802192G>C	GRCh38
NC_000014.8:g.57268910G>C , CM000676.1:g.57268910G>C	GRCh37
NC_000014.7:g.56338663G>C	NCBI36
NG_008204.1:g.13275C>G
NG_008204.2:g.19502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.437C>G	ENSP00000451357.2:p.Ser146Ter
ENST00000555804.2:c.413C>G	ENSP00000451272.2:p.Ser138Ter
ENST00000685244.1:c.413C>G	ENSP00000508798.1:p.Ser138Ter
ENST00000339475.10:c.413C>G	ENSP00000343819.5:p.Ser138Ter
ENST00000408990.8:c.413C>G	ENSP00000386185.3:p.Ser138Ter
ENST00000672125.1:c.360+53C>G	ENSP00000500744.1:n.360+53C>G
ENST00000672264.2:c.437C>G MANE Select	ENSP00000500115.1:p.Ser146Ter
ENST00000673035.1:c.413C>G	ENSP00000500061.1:p.Ser138Ter
ENST00000673481.1:c.437C>G	ENSP00000500595.1:p.Ser146Ter
ENST00000339475.9:c.437C>G	ENSP00000343819.4:p.Ser146Ter
ENST00000408990.7:c.413C>G	ENSP00000386185.3:p.Ser138Ter
ENST00000554559.5:c.*153C>G	ENSP00000450468.1:n.*153C>G
ENST00000554788.5:c.*153C>G	ENSP00000474486.1:n.*153C>G
ENST00000554845.1:c.437C>G	ENSP00000451357.1:p.Ser146Ter
ENST00000555006.5:c.413C>G	ENSP00000452336.1:p.Ser138Ter
ENST00000555804.1:c.413C>G	ENSP00000451272.1:p.Ser138Ter
NM_001270523.1:c.413C>G	NP_001257452.1:p.Ser138Ter
NM_001270524.1:c.413C>G	NP_001257453.1:p.Ser138Ter
NM_001270525.1:c.437C>G	NP_001257454.1:p.Ser146Ter
NM_021728.3:c.437C>G	NP_068374.1:p.Ser146Ter
NM_172337.2:c.413C>G	NP_758840.1:p.Ser138Ter
NR_073034.1:n.545C>G
NR_073036.1:n.468C>G
NM_001270523.2:c.413C>G	NP_001257452.1:p.Ser138Ter
NM_001270524.2:c.413C>G	NP_001257453.1:p.Ser138Ter
NM_001270525.2:c.437C>G	NP_001257454.1:p.Ser146Ter
NM_021728.4:c.437C>G MANE Select	NP_068374.1:p.Ser146Ter
NM_172337.3:c.413C>G	NP_758840.1:p.Ser138Ter
NR_073034.2:n.548C>G
NR_073036.2:n.472C>G