Canonical Allele Identifier: CA390051926

Gene: OTX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802223T>G , CM000676.2:g.56802223T>G	GRCh38
NC_000014.8:g.57268941T>G , CM000676.1:g.57268941T>G	GRCh37
NC_000014.7:g.56338694T>G	NCBI36
NG_008204.1:g.13244A>C
NG_008204.2:g.19471A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_021728.4:c.406A>C MANE Select	NP_068374.1:p.Ser136Arg
ENST00000672264.2:c.406A>C MANE Select	ENSP00000500115.1:p.Ser136Arg
NM_001270523.1:c.382A>C	NP_001257452.1:p.Ser128Arg
NM_001270523.2:c.382A>C	NP_001257452.1:p.Ser128Arg
NM_001270524.1:c.382A>C	NP_001257453.1:p.Ser128Arg
NM_001270524.2:c.382A>C	NP_001257453.1:p.Ser128Arg
NM_001270525.1:c.406A>C	NP_001257454.1:p.Ser136Arg
NM_001270525.2:c.406A>C	NP_001257454.1:p.Ser136Arg
NM_021728.3:c.406A>C	NP_068374.1:p.Ser136Arg
NM_172337.2:c.382A>C	NP_758840.1:p.Ser128Arg
NM_172337.3:c.382A>C	NP_758840.1:p.Ser128Arg
NR_073034.1:n.514A>C
NR_073034.2:n.517A>C
NR_073036.1:n.437A>C
NR_073036.2:n.441A>C
ENST00000339475.10:c.382A>C	ENSP00000343819.5:p.Ser128Arg
ENST00000339475.9:c.406A>C	ENSP00000343819.4:p.Ser136Arg
ENST00000408990.7:c.382A>C	ENSP00000386185.3:p.Ser128Arg
ENST00000408990.8:c.382A>C	ENSP00000386185.3:p.Ser128Arg
ENST00000554559.5:c.*122A>C	ENSP00000450468.1:n.*122A>C
ENST00000554788.5:c.*122A>C	ENSP00000474486.1:n.*122A>C
ENST00000554845.1:c.406A>C	ENSP00000451357.1:p.Ser136Arg
ENST00000554845.2:c.406A>C	ENSP00000451357.2:p.Ser136Arg
ENST00000555006.5:c.382A>C	ENSP00000452336.1:p.Ser128Arg
ENST00000555804.1:c.382A>C	ENSP00000451272.1:p.Ser128Arg
ENST00000555804.2:c.382A>C	ENSP00000451272.2:p.Ser128Arg
ENST00000672125.1:c.360+22A>C	ENSP00000500744.1:n.360+22A>C
ENST00000673035.1:c.382A>C	ENSP00000500061.1:p.Ser128Arg
ENST00000673481.1:c.406A>C	ENSP00000500595.1:p.Ser136Arg
ENST00000685244.1:c.382A>C	ENSP00000508798.1:p.Ser128Arg