Canonical Allele Identifier: CA390051961

Gene: OTX2

Linked Data

• MyVariant Identifiers: chr14:g.57268958C>A (hg19) ; chr14:g.56802240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56802240C>A , CM000676.2:g.56802240C>A	GRCh38
NC_000014.8:g.57268958C>A , CM000676.1:g.57268958C>A	GRCh37
NC_000014.7:g.56338711C>A	NCBI36
NG_008204.1:g.13227G>T
NG_008204.2:g.19454G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000554845.2:c.389G>T	ENSP00000451357.2:p.Ser130Ile
ENST00000555804.2:c.365G>T	ENSP00000451272.2:p.Ser122Ile
ENST00000685244.1:c.365G>T	ENSP00000508798.1:p.Ser122Ile
ENST00000339475.10:c.365G>T	ENSP00000343819.5:p.Ser122Ile
ENST00000408990.8:c.365G>T	ENSP00000386185.3:p.Ser122Ile
ENST00000672125.1:c.360+5G>T	ENSP00000500744.1:n.360+5G>T
ENST00000672264.2:c.389G>T MANE Select	ENSP00000500115.1:p.Ser130Ile
ENST00000673035.1:c.365G>T	ENSP00000500061.1:p.Ser122Ile
ENST00000673481.1:c.389G>T	ENSP00000500595.1:p.Ser130Ile
ENST00000339475.9:c.389G>T	ENSP00000343819.4:p.Ser130Ile
ENST00000408990.7:c.365G>T	ENSP00000386185.3:p.Ser122Ile
ENST00000554559.5:c.*105G>T	ENSP00000450468.1:n.*105G>T
ENST00000554788.5:c.*105G>T	ENSP00000474486.1:n.*105G>T
ENST00000554845.1:c.389G>T	ENSP00000451357.1:p.Ser130Ile
ENST00000555006.5:c.365G>T	ENSP00000452336.1:p.Ser122Ile
ENST00000555804.1:c.365G>T	ENSP00000451272.1:p.Ser122Ile
NM_001270523.1:c.365G>T	NP_001257452.1:p.Ser122Ile
NM_001270524.1:c.365G>T	NP_001257453.1:p.Ser122Ile
NM_001270525.1:c.389G>T	NP_001257454.1:p.Ser130Ile
NM_021728.3:c.389G>T	NP_068374.1:p.Ser130Ile
NM_172337.2:c.365G>T	NP_758840.1:p.Ser122Ile
NR_073034.1:n.497G>T
NR_073036.1:n.420G>T
NM_001270523.2:c.365G>T	NP_001257452.1:p.Ser122Ile
NM_001270524.2:c.365G>T	NP_001257453.1:p.Ser122Ile
NM_001270525.2:c.389G>T	NP_001257454.1:p.Ser130Ile
NM_021728.4:c.389G>T MANE Select	NP_068374.1:p.Ser130Ile
NM_172337.3:c.365G>T	NP_758840.1:p.Ser122Ile
NR_073034.2:n.500G>T
NR_073036.2:n.424G>T