Canonical Allele Identifier: CA486668860

Gene: OTX2

Linked Data

• dbSNP Id: rs1257411968
• gnomAD v2: 14-57268714-T-A
• gnomAD v4: 14-56801996-T-A
• COSMIC: COSM2245570
• MyVariant Identifiers: chr14:g.57268714T>A (hg19) ; chr14:g.56801996T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801996T>A , CM000676.2:g.56801996T>A	GRCh38
NC_000014.8:g.57268714T>A , CM000676.1:g.57268714T>A	GRCh37
NC_000014.7:g.56338467T>A	NCBI36
NG_008204.1:g.13471A>T
NG_008204.2:g.19698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.633A>T	ENSP00000451357.2:p.Ser211=
ENST00000555804.2:c.609A>T	ENSP00000451272.2:p.Ser203=
ENST00000685244.1:c.609A>T	ENSP00000508798.1:p.Ser203=
ENST00000339475.10:c.609A>T	ENSP00000343819.5:p.Ser203=
ENST00000408990.8:c.609A>T	ENSP00000386185.3:p.Ser203=
ENST00000672125.1:c.361-115A>T	ENSP00000500744.1:n.361-115A>T
ENST00000672264.2:c.633A>T MANE Select	ENSP00000500115.1:p.Ser211=
ENST00000673035.1:c.609A>T	ENSP00000500061.1:p.Ser203=
ENST00000673481.1:c.633A>T	ENSP00000500595.1:p.Ser211=
ENST00000339475.9:c.633A>T	ENSP00000343819.4:p.Ser211=
ENST00000408990.7:c.609A>T	ENSP00000386185.3:p.Ser203=
ENST00000554788.5:c.*349A>T	ENSP00000474486.1:n.*349A>T
ENST00000554845.1:c.633A>T	ENSP00000451357.1:p.Ser211=
ENST00000555006.5:c.609A>T	ENSP00000452336.1:p.Ser203=
NM_001270523.1:c.609A>T	NP_001257452.1:p.Ser203=
NM_001270524.1:c.609A>T	NP_001257453.1:p.Ser203=
NM_001270525.1:c.633A>T	NP_001257454.1:p.Ser211=
NM_021728.3:c.633A>T	NP_068374.1:p.Ser211=
NM_172337.2:c.609A>T	NP_758840.1:p.Ser203=
NR_073034.1:n.741A>T
NR_073036.1:n.664A>T
NM_001270523.2:c.609A>T	NP_001257452.1:p.Ser203=
NM_001270524.2:c.609A>T	NP_001257453.1:p.Ser203=
NM_001270525.2:c.633A>T	NP_001257454.1:p.Ser211=
NM_021728.4:c.633A>T MANE Select	NP_068374.1:p.Ser211=
NM_172337.3:c.609A>T	NP_758840.1:p.Ser203=
NR_073034.2:n.744A>T
NR_073036.2:n.668A>T