Canonical Allele Identifier: CA7200430
Gene: OTX2 HGNC NCBI

Linked Data

dbSNP Id: rs747665958

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.56801898G>A , CM000676.2:g.56801898G>A GRCh38
NC_000014.8:g.57268616G>A , CM000676.1:g.57268616G>A GRCh37
NC_000014.7:g.56338369G>A NCBI36
NG_008204.1:g.13569C>T
NG_008204.2:g.19796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000554845.2:c.731C>T ENSP00000451357.2:p.Ala244Val
ENST00000555804.2:c.707C>T ENSP00000451272.2:p.Ala236Val
ENST00000685244.1:c.707C>T ENSP00000508798.1:p.Ala236Val
ENST00000339475.10:c.707C>T ENSP00000343819.5:p.Ala236Val
ENST00000408990.8:c.707C>T ENSP00000386185.3:p.Ala236Val
ENST00000672125.1:c.361-17C>T ENSP00000500744.1:n.361-17C>T
ENST00000672264.2:c.731C>T MANE Select ENSP00000500115.1:p.Ala244Val
ENST00000673035.1:c.707C>T ENSP00000500061.1:p.Ala236Val
ENST00000673481.1:c.731C>T ENSP00000500595.1:p.Ala244Val
ENST00000339475.9:c.731C>T ENSP00000343819.4:p.Ala244Val
ENST00000408990.7:c.707C>T ENSP00000386185.3:p.Ala236Val
ENST00000554788.5:c.*447C>T ENSP00000474486.1:n.*447C>T
ENST00000555006.5:c.707C>T ENSP00000452336.1:p.Ala236Val
NM_001270523.1:c.707C>T NP_001257452.1:p.Ala236Val
NM_001270524.1:c.707C>T NP_001257453.1:p.Ala236Val
NM_001270525.1:c.731C>T NP_001257454.1:p.Ala244Val
NM_021728.3:c.731C>T NP_068374.1:p.Ala244Val
NM_172337.2:c.707C>T NP_758840.1:p.Ala236Val
NR_073034.1:n.839C>T
NR_073036.1:n.762C>T
NM_001270523.2:c.707C>T NP_001257452.1:p.Ala236Val
NM_001270524.2:c.707C>T NP_001257453.1:p.Ala236Val
NM_001270525.2:c.731C>T NP_001257454.1:p.Ala244Val
NM_021728.4:c.731C>T MANE Select NP_068374.1:p.Ala244Val
NM_172337.3:c.707C>T NP_758840.1:p.Ala236Val
NR_073034.2:n.842C>T
NR_073036.2:n.766C>T