Canonical Allele Identifier: CA390051203

Gene: OTX2

Linked Data

• gnomAD v4: 14-56801877-T-C
• MyVariant Identifiers: chr14:g.57268595T>C (hg19) ; chr14:g.56801877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801877T>C , CM000676.2:g.56801877T>C	GRCh38
NC_000014.8:g.57268595T>C , CM000676.1:g.57268595T>C	GRCh37
NC_000014.7:g.56338348T>C	NCBI36
NG_008204.1:g.13590A>G
NG_008204.2:g.19817A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.752A>G	ENSP00000451357.2:p.Tyr251Cys
ENST00000555804.2:c.728A>G	ENSP00000451272.2:p.Tyr243Cys
ENST00000685244.1:c.728A>G	ENSP00000508798.1:p.Tyr243Cys
ENST00000339475.10:c.728A>G	ENSP00000343819.5:p.Tyr243Cys
ENST00000408990.8:c.728A>G	ENSP00000386185.3:p.Tyr243Cys
ENST00000672125.1:c.365A>G	ENSP00000500744.1:p.Tyr122Cys
ENST00000672264.2:c.752A>G MANE Select	ENSP00000500115.1:p.Tyr251Cys
ENST00000673035.1:c.728A>G	ENSP00000500061.1:p.Tyr243Cys
ENST00000673481.1:c.752A>G	ENSP00000500595.1:p.Tyr251Cys
ENST00000339475.9:c.752A>G	ENSP00000343819.4:p.Tyr251Cys
ENST00000408990.7:c.728A>G	ENSP00000386185.3:p.Tyr243Cys
ENST00000554788.5:c.*468A>G	ENSP00000474486.1:n.*468A>G
ENST00000555006.5:c.728A>G	ENSP00000452336.1:p.Tyr243Cys
NM_001270523.1:c.728A>G	NP_001257452.1:p.Tyr243Cys
NM_001270524.1:c.728A>G	NP_001257453.1:p.Tyr243Cys
NM_001270525.1:c.752A>G	NP_001257454.1:p.Tyr251Cys
NM_021728.3:c.752A>G	NP_068374.1:p.Tyr251Cys
NM_172337.2:c.728A>G	NP_758840.1:p.Tyr243Cys
NR_073034.1:n.860A>G
NR_073036.1:n.783A>G
NM_001270523.2:c.728A>G	NP_001257452.1:p.Tyr243Cys
NM_001270524.2:c.728A>G	NP_001257453.1:p.Tyr243Cys
NM_001270525.2:c.752A>G	NP_001257454.1:p.Tyr251Cys
NM_021728.4:c.752A>G MANE Select	NP_068374.1:p.Tyr251Cys
NM_172337.3:c.728A>G	NP_758840.1:p.Tyr243Cys
NR_073034.2:n.863A>G
NR_073036.2:n.787A>G