Canonical Allele Identifier: CA120500
Gene: OTX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9516
ClinVar RCV Id: RCV000010124
dbSNP Id: rs104894464

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.56802340G>C , CM000676.2:g.56802340G>C GRCh38
NC_000014.8:g.57269058G>C , CM000676.1:g.57269058G>C GRCh37
NC_000014.7:g.56338811G>C NCBI36
NG_008204.1:g.13127C>G
NG_008204.2:g.19354C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000554845.2:c.289C>G ENSP00000451357.2:p.Arg97Gly
ENST00000555804.2:c.265C>G ENSP00000451272.2:p.Arg89Gly
ENST00000685244.1:c.265C>G ENSP00000508798.1:p.Arg89Gly
ENST00000339475.10:c.265C>G ENSP00000343819.5:p.Arg89Gly
ENST00000408990.8:c.265C>G ENSP00000386185.3:p.Arg89Gly
ENST00000672125.1:c.265C>G ENSP00000500744.1:p.Arg89Gly
ENST00000672264.2:c.289C>G MANE Select ENSP00000500115.1:p.Arg97Gly
ENST00000673035.1:c.265C>G ENSP00000500061.1:p.Arg89Gly
ENST00000673481.1:c.289C>G ENSP00000500595.1:p.Arg97Gly
ENST00000339475.9:c.289C>G ENSP00000343819.4:p.Arg97Gly
ENST00000408990.7:c.265C>G ENSP00000386185.3:p.Arg89Gly
ENST00000554559.5:c.*5C>G ENSP00000450468.1:n.*5C>G
ENST00000554788.5:c.*5C>G ENSP00000474486.1:n.*5C>G
ENST00000554845.1:c.289C>G ENSP00000451357.1:p.Arg97Gly
ENST00000555006.5:c.265C>G ENSP00000452336.1:p.Arg89Gly
ENST00000555804.1:c.265C>G ENSP00000451272.1:p.Arg89Gly
NM_001270523.1:c.265C>G NP_001257452.1:p.Arg89Gly
NM_001270524.1:c.265C>G NP_001257453.1:p.Arg89Gly
NM_001270525.1:c.289C>G NP_001257454.1:p.Arg97Gly
NM_021728.3:c.289C>G NP_068374.1:p.Arg97Gly
NM_172337.2:c.265C>G NP_758840.1:p.Arg89Gly
NR_073034.1:n.397C>G
NR_073036.1:n.320C>G
NM_001270523.2:c.265C>G NP_001257452.1:p.Arg89Gly
NM_001270524.2:c.265C>G NP_001257453.1:p.Arg89Gly
NM_001270525.2:c.289C>G NP_001257454.1:p.Arg97Gly
NM_021728.4:c.289C>G MANE Select NP_068374.1:p.Arg97Gly
NM_172337.3:c.265C>G NP_758840.1:p.Arg89Gly
NR_073034.2:n.400C>G
NR_073036.2:n.324C>G