Canonical Allele Identifier: CA10644340

Gene: OTX2

Linked Data

• ClinVar Variation Id: 313415
• ClinVar RCV Id: RCV000368520 ; RCV000311619 ; RCV000406892 ; RCV000401411
• dbSNP Id: rs142727455
• gnomAD v2: 14-57268137-C-T
• gnomAD v3: 14-56801419-C-T
• gnomAD v4: 14-56801419-C-T
• MyVariant Identifiers: chr14:g.57268137C>T (hg19) ; chr14:g.56801419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801419C>T , CM000676.2:g.56801419C>T	GRCh38
NC_000014.8:g.57268137C>T , CM000676.1:g.57268137C>T	GRCh37
NC_000014.7:g.56337890C>T	NCBI36
NG_008204.1:g.14048G>A
NG_008204.2:g.20275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685244.1:c.*316G>A	ENSP00000508798.1:n.*316G>A
ENST00000339475.10:c.*316G>A	ENSP00000343819.5:n.*316G>A
ENST00000408990.8:c.*316G>A	ENSP00000386185.3:n.*316G>A
ENST00000672125.1:c.*316G>A	ENSP00000500744.1:n.*316G>A
ENST00000672264.2:c.*316G>A MANE Select	ENSP00000500115.1:n.*316G>A
ENST00000673035.1:c.*316G>A	ENSP00000500061.1:n.*316G>A
ENST00000673481.1:c.*316G>A	ENSP00000500595.1:n.*316G>A
ENST00000339475.9:c.*316G>A	ENSP00000343819.4:n.*316G>A
NM_001270523.1:c.*316G>A	NP_001257452.1:n.*316G>A
NM_001270524.1:c.*316G>A	NP_001257453.1:n.*316G>A
NM_001270525.1:c.*316G>A	NP_001257454.1:n.*316G>A
NM_021728.3:c.*316G>A	NP_068374.1:n.*316G>A
NM_172337.2:c.*316G>A	NP_758840.1:n.*316G>A
NR_073034.1:n.1318G>A
NR_073036.1:n.1241G>A
NM_001270523.2:c.*316G>A	NP_001257452.1:n.*316G>A
NM_001270524.2:c.*316G>A	NP_001257453.1:n.*316G>A
NM_001270525.2:c.*316G>A	NP_001257454.1:n.*316G>A
NM_021728.4:c.*316G>A MANE Select	NP_068374.1:n.*316G>A
NM_172337.3:c.*316G>A	NP_758840.1:n.*316G>A
NR_073034.2:n.1321G>A
NR_073036.2:n.1245G>A