Canonical Allele Identifier: CA390051230

Gene: OTX2

Linked Data

• MyVariant Identifiers: chr14:g.57268610A>C (hg19) ; chr14:g.56801892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801892A>C , CM000676.2:g.56801892A>C	GRCh38
NC_000014.8:g.57268610A>C , CM000676.1:g.57268610A>C	GRCh37
NC_000014.7:g.56338363A>C	NCBI36
NG_008204.1:g.13575T>G
NG_008204.2:g.19802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.737T>G	ENSP00000451357.2:p.Leu246Arg
ENST00000555804.2:c.713T>G	ENSP00000451272.2:p.Leu238Arg
ENST00000685244.1:c.713T>G	ENSP00000508798.1:p.Leu238Arg
ENST00000339475.10:c.713T>G	ENSP00000343819.5:p.Leu238Arg
ENST00000408990.8:c.713T>G	ENSP00000386185.3:p.Leu238Arg
ENST00000672125.1:c.361-11T>G	ENSP00000500744.1:n.361-11T>G
ENST00000672264.2:c.737T>G MANE Select	ENSP00000500115.1:p.Leu246Arg
ENST00000673035.1:c.713T>G	ENSP00000500061.1:p.Leu238Arg
ENST00000673481.1:c.737T>G	ENSP00000500595.1:p.Leu246Arg
ENST00000339475.9:c.737T>G	ENSP00000343819.4:p.Leu246Arg
ENST00000408990.7:c.713T>G	ENSP00000386185.3:p.Leu238Arg
ENST00000554788.5:c.*453T>G	ENSP00000474486.1:n.*453T>G
ENST00000555006.5:c.713T>G	ENSP00000452336.1:p.Leu238Arg
NM_001270523.1:c.713T>G	NP_001257452.1:p.Leu238Arg
NM_001270524.1:c.713T>G	NP_001257453.1:p.Leu238Arg
NM_001270525.1:c.737T>G	NP_001257454.1:p.Leu246Arg
NM_021728.3:c.737T>G	NP_068374.1:p.Leu246Arg
NM_172337.2:c.713T>G	NP_758840.1:p.Leu238Arg
NR_073034.1:n.845T>G
NR_073036.1:n.768T>G
NM_001270523.2:c.713T>G	NP_001257452.1:p.Leu238Arg
NM_001270524.2:c.713T>G	NP_001257453.1:p.Leu238Arg
NM_001270525.2:c.737T>G	NP_001257454.1:p.Leu246Arg
NM_021728.4:c.737T>G MANE Select	NP_068374.1:p.Leu246Arg
NM_172337.3:c.713T>G	NP_758840.1:p.Leu238Arg
NR_073034.2:n.848T>G
NR_073036.2:n.772T>G