Canonical Allele Identifier: CA2139133940

Gene: OTX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801886G= , CM000676.2:g.56801886G=	GRCh38
NC_000014.8:g.57268604G= , CM000676.1:g.57268604G=	GRCh37
NC_000014.7:g.56338357G=	NCBI36
NG_008204.1:g.13581C=
NG_008204.2:g.19808C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.743C=	ENSP00000451357.2:p.Thr248=
ENST00000555804.2:c.719C=	ENSP00000451272.2:p.Thr240=
ENST00000685244.1:c.719C=	ENSP00000508798.1:p.Thr240=
ENST00000339475.10:c.719C=	ENSP00000343819.5:p.Thr240=
ENST00000408990.8:c.719C=	ENSP00000386185.3:p.Thr240=
ENST00000672125.1:c.361-5C=	ENSP00000500744.1:n.361-5C=
ENST00000672264.2:c.743C= MANE Select	ENSP00000500115.1:p.Thr248=
ENST00000673035.1:c.719C=	ENSP00000500061.1:p.Thr240=
ENST00000673481.1:c.743C=	ENSP00000500595.1:p.Thr248=
ENST00000339475.9:c.743C=	ENSP00000343819.4:p.Thr248=
ENST00000408990.7:c.719C=	ENSP00000386185.3:p.Thr240=
ENST00000554788.5:c.*459C=	ENSP00000474486.1:n.*459C=
ENST00000555006.5:c.719C=	ENSP00000452336.1:p.Thr240=
NM_001270523.1:c.719C=	NP_001257452.1:p.Thr240=
NM_001270524.1:c.719C=	NP_001257453.1:p.Thr240=
NM_001270525.1:c.743C=	NP_001257454.1:p.Thr248=
NM_021728.3:c.743C=	NP_068374.1:p.Thr248=
NM_172337.2:c.719C=	NP_758840.1:p.Thr240=
NR_073034.1:n.851C=
NR_073036.1:n.774C=
NM_001270523.2:c.719C=	NP_001257452.1:p.Thr240=
NM_001270524.2:c.719C=	NP_001257453.1:p.Thr240=
NM_001270525.2:c.743C=	NP_001257454.1:p.Thr248=
NM_021728.4:c.743C= MANE Select	NP_068374.1:p.Thr248=
NM_172337.3:c.719C=	NP_758840.1:p.Thr240=
NR_073034.2:n.854C=
NR_073036.2:n.778C=