Canonical Allele Identifier: CA390051233

Gene: OTX2

Linked Data

• COSMIC: COSM3496488
• MyVariant Identifiers: chr14:g.57268611G>A (hg19) ; chr14:g.56801893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801893G>A , CM000676.2:g.56801893G>A	GRCh38
NC_000014.8:g.57268611G>A , CM000676.1:g.57268611G>A	GRCh37
NC_000014.7:g.56338364G>A	NCBI36
NG_008204.1:g.13574C>T
NG_008204.2:g.19801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.736C>T	ENSP00000451357.2:p.Leu246Phe
ENST00000555804.2:c.712C>T	ENSP00000451272.2:p.Leu238Phe
ENST00000685244.1:c.712C>T	ENSP00000508798.1:p.Leu238Phe
ENST00000339475.10:c.712C>T	ENSP00000343819.5:p.Leu238Phe
ENST00000408990.8:c.712C>T	ENSP00000386185.3:p.Leu238Phe
ENST00000672125.1:c.361-12C>T	ENSP00000500744.1:n.361-12C>T
ENST00000672264.2:c.736C>T MANE Select	ENSP00000500115.1:p.Leu246Phe
ENST00000673035.1:c.712C>T	ENSP00000500061.1:p.Leu238Phe
ENST00000673481.1:c.736C>T	ENSP00000500595.1:p.Leu246Phe
ENST00000339475.9:c.736C>T	ENSP00000343819.4:p.Leu246Phe
ENST00000408990.7:c.712C>T	ENSP00000386185.3:p.Leu238Phe
ENST00000554788.5:c.*452C>T	ENSP00000474486.1:n.*452C>T
ENST00000555006.5:c.712C>T	ENSP00000452336.1:p.Leu238Phe
NM_001270523.1:c.712C>T	NP_001257452.1:p.Leu238Phe
NM_001270524.1:c.712C>T	NP_001257453.1:p.Leu238Phe
NM_001270525.1:c.736C>T	NP_001257454.1:p.Leu246Phe
NM_021728.3:c.736C>T	NP_068374.1:p.Leu246Phe
NM_172337.2:c.712C>T	NP_758840.1:p.Leu238Phe
NR_073034.1:n.844C>T
NR_073036.1:n.767C>T
NM_001270523.2:c.712C>T	NP_001257452.1:p.Leu238Phe
NM_001270524.2:c.712C>T	NP_001257453.1:p.Leu238Phe
NM_001270525.2:c.736C>T	NP_001257454.1:p.Leu246Phe
NM_021728.4:c.736C>T MANE Select	NP_068374.1:p.Leu246Phe
NM_172337.3:c.712C>T	NP_758840.1:p.Leu238Phe
NR_073034.2:n.847C>T
NR_073036.2:n.771C>T