Canonical Allele Identifier: CA7200493

Gene: OTX2

Linked Data

• dbSNP Id: rs748205899
• ExAC: 14:57268959 T / C
• gnomAD v2: 14-57268959-T-C
• gnomAD v4: 14-56802241-T-C
• MyVariant Identifiers: chr14:g.57268959T>C (hg19) ; chr14:g.56802241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802241T>C , CM000676.2:g.56802241T>C	GRCh38
NC_000014.8:g.57268959T>C , CM000676.1:g.57268959T>C	GRCh37
NC_000014.7:g.56338712T>C	NCBI36
NG_008204.1:g.13226A>G
NG_008204.2:g.19453A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000554845.2:c.388A>G	ENSP00000451357.2:p.Ser130Gly
ENST00000555804.2:c.364A>G	ENSP00000451272.2:p.Ser122Gly
ENST00000685244.1:c.364A>G	ENSP00000508798.1:p.Ser122Gly
ENST00000339475.10:c.364A>G	ENSP00000343819.5:p.Ser122Gly
ENST00000408990.8:c.364A>G	ENSP00000386185.3:p.Ser122Gly
ENST00000672125.1:c.360+4A>G	ENSP00000500744.1:n.360+4A>G
ENST00000672264.2:c.388A>G MANE Select	ENSP00000500115.1:p.Ser130Gly
ENST00000673035.1:c.364A>G	ENSP00000500061.1:p.Ser122Gly
ENST00000673481.1:c.388A>G	ENSP00000500595.1:p.Ser130Gly
ENST00000339475.9:c.388A>G	ENSP00000343819.4:p.Ser130Gly
ENST00000408990.7:c.364A>G	ENSP00000386185.3:p.Ser122Gly
ENST00000554559.5:c.*104A>G	ENSP00000450468.1:n.*104A>G
ENST00000554788.5:c.*104A>G	ENSP00000474486.1:n.*104A>G
ENST00000554845.1:c.388A>G	ENSP00000451357.1:p.Ser130Gly
ENST00000555006.5:c.364A>G	ENSP00000452336.1:p.Ser122Gly
ENST00000555804.1:c.364A>G	ENSP00000451272.1:p.Ser122Gly
NM_001270523.1:c.364A>G	NP_001257452.1:p.Ser122Gly
NM_001270524.1:c.364A>G	NP_001257453.1:p.Ser122Gly
NM_001270525.1:c.388A>G	NP_001257454.1:p.Ser130Gly
NM_021728.3:c.388A>G	NP_068374.1:p.Ser130Gly
NM_172337.2:c.364A>G	NP_758840.1:p.Ser122Gly
NR_073034.1:n.496A>G
NR_073036.1:n.419A>G
NM_001270523.2:c.364A>G	NP_001257452.1:p.Ser122Gly
NM_001270524.2:c.364A>G	NP_001257453.1:p.Ser122Gly
NM_001270525.2:c.388A>G	NP_001257454.1:p.Ser130Gly
NM_021728.4:c.388A>G MANE Select	NP_068374.1:p.Ser130Gly
NM_172337.3:c.364A>G	NP_758840.1:p.Ser122Gly
NR_073034.2:n.499A>G
NR_073036.2:n.423A>G