Canonical Allele Identifier: CA10640346

Gene: OTX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56800802G>A , CM000676.2:g.56800802G>A	GRCh38
NC_000014.8:g.57267520G>A , CM000676.1:g.57267520G>A	GRCh37
NC_000014.7:g.56337273G>A	NCBI36
NG_008204.1:g.14665C>T
NG_008204.2:g.20892C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_021728.4:c.*933C>T MANE Select	NP_068374.1:n.*933C>T
ENST00000672264.2:c.*933C>T MANE Select	ENSP00000500115.1:n.*933C>T
NM_001270523.1:c.*933C>T	NP_001257452.1:n.*933C>T
NM_001270523.2:c.*933C>T	NP_001257452.1:n.*933C>T
NM_001270524.1:c.*933C>T	NP_001257453.1:n.*933C>T
NM_001270524.2:c.*933C>T	NP_001257453.1:n.*933C>T
NM_001270525.1:c.*933C>T	NP_001257454.1:n.*933C>T
NM_001270525.2:c.*933C>T	NP_001257454.1:n.*933C>T
NM_021728.3:c.*933C>T	NP_068374.1:n.*933C>T
NM_172337.2:c.*933C>T	NP_758840.1:n.*933C>T
NM_172337.3:c.*933C>T	NP_758840.1:n.*933C>T
NR_073034.1:n.1935C>T
NR_073034.2:n.1938C>T
NR_073036.1:n.1858C>T
NR_073036.2:n.1862C>T
ENST00000339475.10:c.*933C>T	ENSP00000343819.5:n.*933C>T
ENST00000339475.9:c.*933C>T	ENSP00000343819.4:n.*933C>T
ENST00000408990.8:c.*933C>T	ENSP00000386185.3:n.*933C>T
ENST00000672125.1:c.*933C>T	ENSP00000500744.1:n.*933C>T
ENST00000673035.1:c.*933C>T	ENSP00000500061.1:n.*933C>T
ENST00000673481.1:c.*933C>T	ENSP00000500595.1:n.*933C>T
ENST00000685244.1:c.*933C>T	ENSP00000508798.1:n.*933C>T