Canonical Allele Identifier: CA390051244

Gene: OTX2

Linked Data

• ClinVar Variation Id: 1029266
• ClinVar RCV Id: RCV001330508
• dbSNP Id: rs1594952158
• MyVariant Identifiers: chr14:g.57268617C>T (hg19) ; chr14:g.56801899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801899C>T , CM000676.2:g.56801899C>T	GRCh38
NC_000014.8:g.57268617C>T , CM000676.1:g.57268617C>T	GRCh37
NC_000014.7:g.56338370C>T	NCBI36
NG_008204.1:g.13568G>A
NG_008204.2:g.19795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.730G>A	ENSP00000451357.2:p.Ala244Thr
ENST00000555804.2:c.706G>A	ENSP00000451272.2:p.Ala236Thr
ENST00000685244.1:c.706G>A	ENSP00000508798.1:p.Ala236Thr
ENST00000339475.10:c.706G>A	ENSP00000343819.5:p.Ala236Thr
ENST00000408990.8:c.706G>A	ENSP00000386185.3:p.Ala236Thr
ENST00000672125.1:c.361-18G>A	ENSP00000500744.1:n.361-18G>A
ENST00000672264.2:c.730G>A MANE Select	ENSP00000500115.1:p.Ala244Thr
ENST00000673035.1:c.706G>A	ENSP00000500061.1:p.Ala236Thr
ENST00000673481.1:c.730G>A	ENSP00000500595.1:p.Ala244Thr
ENST00000339475.9:c.730G>A	ENSP00000343819.4:p.Ala244Thr
ENST00000408990.7:c.706G>A	ENSP00000386185.3:p.Ala236Thr
ENST00000554788.5:c.*446G>A	ENSP00000474486.1:n.*446G>A
ENST00000555006.5:c.706G>A	ENSP00000452336.1:p.Ala236Thr
NM_001270523.1:c.706G>A	NP_001257452.1:p.Ala236Thr
NM_001270524.1:c.706G>A	NP_001257453.1:p.Ala236Thr
NM_001270525.1:c.730G>A	NP_001257454.1:p.Ala244Thr
NM_021728.3:c.730G>A	NP_068374.1:p.Ala244Thr
NM_172337.2:c.706G>A	NP_758840.1:p.Ala236Thr
NR_073034.1:n.838G>A
NR_073036.1:n.761G>A
NM_001270523.2:c.706G>A	NP_001257452.1:p.Ala236Thr
NM_001270524.2:c.706G>A	NP_001257453.1:p.Ala236Thr
NM_001270525.2:c.730G>A	NP_001257454.1:p.Ala244Thr
NM_021728.4:c.730G>A MANE Select	NP_068374.1:p.Ala244Thr
NM_172337.3:c.706G>A	NP_758840.1:p.Ala236Thr
NR_073034.2:n.841G>A
NR_073036.2:n.765G>A