Canonical Allele Identifier: CA390051163
Gene: OTX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.56801857A>G , CM000676.2:g.56801857A>G GRCh38
NC_000014.8:g.57268575A>G , CM000676.1:g.57268575A>G GRCh37
NC_000014.7:g.56338328A>G NCBI36
NG_008204.1:g.13610T>C
NG_008204.2:g.19837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000554845.2:c.772T>C ENSP00000451357.2:p.Phe258Leu
ENST00000555804.2:c.748T>C ENSP00000451272.2:p.Phe250Leu
ENST00000685244.1:c.748T>C ENSP00000508798.1:p.Phe250Leu
ENST00000339475.10:c.748T>C ENSP00000343819.5:p.Phe250Leu
ENST00000408990.8:c.748T>C ENSP00000386185.3:p.Phe250Leu
ENST00000672125.1:c.385T>C ENSP00000500744.1:p.Phe129Leu
ENST00000672264.2:c.772T>C MANE Select ENSP00000500115.1:p.Phe258Leu
ENST00000673035.1:c.748T>C ENSP00000500061.1:p.Phe250Leu
ENST00000673481.1:c.772T>C ENSP00000500595.1:p.Phe258Leu
ENST00000339475.9:c.772T>C ENSP00000343819.4:p.Phe258Leu
ENST00000408990.7:c.748T>C ENSP00000386185.3:p.Phe250Leu
ENST00000554788.5:c.*488T>C ENSP00000474486.1:n.*488T>C
ENST00000555006.5:c.748T>C ENSP00000452336.1:p.Phe250Leu
NM_001270523.1:c.748T>C NP_001257452.1:p.Phe250Leu
NM_001270524.1:c.748T>C NP_001257453.1:p.Phe250Leu
NM_001270525.1:c.772T>C NP_001257454.1:p.Phe258Leu
NM_021728.3:c.772T>C NP_068374.1:p.Phe258Leu
NM_172337.2:c.748T>C NP_758840.1:p.Phe250Leu
NR_073034.1:n.880T>C
NR_073036.1:n.803T>C
NM_001270523.2:c.748T>C NP_001257452.1:p.Phe250Leu
NM_001270524.2:c.748T>C NP_001257453.1:p.Phe250Leu
NM_001270525.2:c.772T>C NP_001257454.1:p.Phe258Leu
NM_021728.4:c.772T>C MANE Select NP_068374.1:p.Phe258Leu
NM_172337.3:c.748T>C NP_758840.1:p.Phe250Leu
NR_073034.2:n.883T>C
NR_073036.2:n.807T>C