Canonical Allele Identifier: CA7200495

Gene: OTX2

Linked Data

• ClinVar Variation Id: 1417039
• ClinVar RCV Id: RCV001923494 ; RCV002491890 ; RCV003395285
• dbSNP Id: rs199799627
• ExAC: 14:57268967 C / T
• gnomAD v2: 14-57268967-C-T
• gnomAD v3: 14-56802249-C-T
• gnomAD v4: 14-56802249-C-T
• MyVariant Identifiers: chr14:g.57268967C>T (hg19) ; chr14:g.56802249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802249C>T , CM000676.2:g.56802249C>T	GRCh38
NC_000014.8:g.57268967C>T , CM000676.1:g.57268967C>T	GRCh37
NC_000014.7:g.56338720C>T	NCBI36
NG_008204.1:g.13218G>A
NG_008204.2:g.19445G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000554845.2:c.380G>A	ENSP00000451357.2:p.Arg127Gln
ENST00000555804.2:c.356G>A	ENSP00000451272.2:p.Arg119Gln
ENST00000685244.1:c.356G>A	ENSP00000508798.1:p.Arg119Gln
ENST00000339475.10:c.356G>A	ENSP00000343819.5:p.Arg119Gln
ENST00000408990.8:c.356G>A	ENSP00000386185.3:p.Arg119Gln
ENST00000672125.1:c.356G>A	ENSP00000500744.1:p.Arg119Gln
ENST00000672264.2:c.380G>A MANE Select	ENSP00000500115.1:p.Arg127Gln
ENST00000673035.1:c.356G>A	ENSP00000500061.1:p.Arg119Gln
ENST00000673481.1:c.380G>A	ENSP00000500595.1:p.Arg127Gln
ENST00000339475.9:c.380G>A	ENSP00000343819.4:p.Arg127Gln
ENST00000408990.7:c.356G>A	ENSP00000386185.3:p.Arg119Gln
ENST00000554559.5:c.*96G>A	ENSP00000450468.1:n.*96G>A
ENST00000554788.5:c.*96G>A	ENSP00000474486.1:n.*96G>A
ENST00000554845.1:c.380G>A	ENSP00000451357.1:p.Arg127Gln
ENST00000555006.5:c.356G>A	ENSP00000452336.1:p.Arg119Gln
ENST00000555804.1:c.356G>A	ENSP00000451272.1:p.Arg119Gln
NM_001270523.1:c.356G>A	NP_001257452.1:p.Arg119Gln
NM_001270524.1:c.356G>A	NP_001257453.1:p.Arg119Gln
NM_001270525.1:c.380G>A	NP_001257454.1:p.Arg127Gln
NM_021728.3:c.380G>A	NP_068374.1:p.Arg127Gln
NM_172337.2:c.356G>A	NP_758840.1:p.Arg119Gln
NR_073034.1:n.488G>A
NR_073036.1:n.411G>A
NM_001270523.2:c.356G>A	NP_001257452.1:p.Arg119Gln
NM_001270524.2:c.356G>A	NP_001257453.1:p.Arg119Gln
NM_001270525.2:c.380G>A	NP_001257454.1:p.Arg127Gln
NM_021728.4:c.380G>A MANE Select	NP_068374.1:p.Arg127Gln
NM_172337.3:c.356G>A	NP_758840.1:p.Arg119Gln
NR_073034.2:n.491G>A
NR_073036.2:n.415G>A