Canonical Allele Identifier: CA16619876
Gene: OTX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422485
ClinVar RCV Id: RCV000480483
dbSNP Id: rs1064795810

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.56804250G>T , CM000676.2:g.56804250G>T GRCh38
NC_000014.8:g.57270968G>T , CM000676.1:g.57270968G>T GRCh37
NC_000014.7:g.56340721G>T NCBI36
NG_008204.1:g.11217C>A
NG_008204.2:g.17444C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000554845.2:c.211C>A ENSP00000451357.2:p.Pro71Thr
ENST00000555804.2:c.187C>A ENSP00000451272.2:p.Pro63Thr
ENST00000685244.1:c.187C>A ENSP00000508798.1:p.Pro63Thr
ENST00000339475.10:c.187C>A ENSP00000343819.5:p.Pro63Thr
ENST00000408990.8:c.187C>A ENSP00000386185.3:p.Pro63Thr
ENST00000672125.1:c.187C>A ENSP00000500744.1:p.Pro63Thr
ENST00000672264.2:c.211C>A MANE Select ENSP00000500115.1:p.Pro71Thr
ENST00000673035.1:c.187C>A ENSP00000500061.1:p.Pro63Thr
ENST00000673481.1:c.211C>A ENSP00000500595.1:p.Pro71Thr
ENST00000339475.9:c.211C>A ENSP00000343819.4:p.Pro71Thr
ENST00000408990.7:c.187C>A ENSP00000386185.3:p.Pro63Thr
ENST00000554559.5:c.97+1110C>A ENSP00000450468.1:n.97+1110C>A
ENST00000554788.5:c.97+1110C>A ENSP00000474486.1:n.97+1110C>A
ENST00000554845.1:c.211C>A ENSP00000451357.1:p.Pro71Thr
ENST00000555006.5:c.187C>A ENSP00000452336.1:p.Pro63Thr
ENST00000555804.1:c.187C>A ENSP00000451272.1:p.Pro63Thr
NM_001270523.1:c.187C>A NP_001257452.1:p.Pro63Thr
NM_001270524.1:c.187C>A NP_001257453.1:p.Pro63Thr
NM_001270525.1:c.211C>A NP_001257454.1:p.Pro71Thr
NM_021728.3:c.211C>A NP_068374.1:p.Pro71Thr
NM_172337.2:c.187C>A NP_758840.1:p.Pro63Thr
NR_073034.1:n.381+1110C>A
NR_073036.1:n.304+1110C>A
NM_001270523.2:c.187C>A NP_001257452.1:p.Pro63Thr
NM_001270524.2:c.187C>A NP_001257453.1:p.Pro63Thr
NM_001270525.2:c.211C>A NP_001257454.1:p.Pro71Thr
NM_021728.4:c.211C>A MANE Select NP_068374.1:p.Pro71Thr
NM_172337.3:c.187C>A NP_758840.1:p.Pro63Thr
NR_073034.2:n.384+1110C>A
NR_073036.2:n.308+1110C>A