Canonical Allele Identifier: CA10640348

Gene: OTX2

Linked Data

• ClinVar Variation Id: 313412
• ClinVar RCV Id: RCV000268781 ; RCV000326073 ; RCV000365689 ; RCV000378416
• dbSNP Id: rs886050557
• gnomAD v2: 14-57267806-T-C
• gnomAD v3: 14-56801088-T-C
• gnomAD v4: 14-56801088-T-C
• MyVariant Identifiers: chr14:g.57267806T>C (hg19) ; chr14:g.56801088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801088T>C , CM000676.2:g.56801088T>C	GRCh38
NC_000014.8:g.57267806T>C , CM000676.1:g.57267806T>C	GRCh37
NC_000014.7:g.56337559T>C	NCBI36
NG_008204.1:g.14379A>G
NG_008204.2:g.20606A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685244.1:c.*647A>G	ENSP00000508798.1:n.*647A>G
ENST00000339475.10:c.*647A>G	ENSP00000343819.5:n.*647A>G
ENST00000408990.8:c.*647A>G	ENSP00000386185.3:n.*647A>G
ENST00000672125.1:c.*647A>G	ENSP00000500744.1:n.*647A>G
ENST00000672264.2:c.*647A>G MANE Select	ENSP00000500115.1:n.*647A>G
ENST00000673035.1:c.*647A>G	ENSP00000500061.1:n.*647A>G
ENST00000673481.1:c.*647A>G	ENSP00000500595.1:n.*647A>G
ENST00000339475.9:c.*647A>G	ENSP00000343819.4:n.*647A>G
NM_001270523.1:c.*647A>G	NP_001257452.1:n.*647A>G
NM_001270524.1:c.*647A>G	NP_001257453.1:n.*647A>G
NM_001270525.1:c.*647A>G	NP_001257454.1:n.*647A>G
NM_021728.3:c.*647A>G	NP_068374.1:n.*647A>G
NM_172337.2:c.*647A>G	NP_758840.1:n.*647A>G
NR_073034.1:n.1649A>G
NR_073036.1:n.1572A>G
NM_001270523.2:c.*647A>G	NP_001257452.1:n.*647A>G
NM_001270524.2:c.*647A>G	NP_001257453.1:n.*647A>G
NM_001270525.2:c.*647A>G	NP_001257454.1:n.*647A>G
NM_021728.4:c.*647A>G MANE Select	NP_068374.1:n.*647A>G
NM_172337.3:c.*647A>G	NP_758840.1:n.*647A>G
NR_073034.2:n.1652A>G
NR_073036.2:n.1576A>G