Canonical Allele Identifier: CA2501182337

Gene: OTX2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801921_56801922insTTT , CM000676.2:g.56801921_56801922insTTT	GRCh38
NC_000014.8:g.57268639_57268640insTTT , CM000676.1:g.57268639_57268640insTTT	GRCh37
NC_000014.7:g.56338392_56338393insTTT	NCBI36
NG_008204.1:g.13545_13546insAAA
NG_008204.2:g.19772_19773insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.707_708insAAA	ENSP00000451357.2:p.Thr236_Ser237insAsn
ENST00000555804.2:c.683_684insAAA	ENSP00000451272.2:p.Thr228_Ser229insAsn
ENST00000685244.1:c.683_684insAAA	ENSP00000508798.1:p.Thr228_Ser229insAsn
ENST00000339475.10:c.683_684insAAA	ENSP00000343819.5:p.Thr228_Ser229insAsn
ENST00000408990.8:c.683_684insAAA	ENSP00000386185.3:p.Thr228_Ser229insAsn
ENST00000672125.1:c.361-41_361-40insAAA	ENSP00000500744.1:n.361-41_361-40insAAA
ENST00000672264.2:c.707_708insAAA MANE Select	ENSP00000500115.1:p.Thr236_Ser237insAsn
ENST00000673035.1:c.683_684insAAA	ENSP00000500061.1:p.Thr228_Ser229insAsn
ENST00000673481.1:c.707_708insAAA	ENSP00000500595.1:p.Thr236_Ser237insAsn
ENST00000339475.9:c.707_708insAAA	ENSP00000343819.4:p.Thr236_Ser237insAsn
ENST00000408990.7:c.683_684insAAA	ENSP00000386185.3:p.Thr228_Ser229insAsn
ENST00000554788.5:c.*423_*424insAAA	ENSP00000474486.1:n.*423_*424insAAA
ENST00000554845.1:c.707_708insAAA	ENSP00000451357.1:p.Thr236_Ser237insAsn
ENST00000555006.5:c.683_684insAAA	ENSP00000452336.1:p.Thr228_Ser229insAsn
NM_001270523.1:c.683_684insAAA	NP_001257452.1:p.Thr228_Ser229insAsn
NM_001270524.1:c.683_684insAAA	NP_001257453.1:p.Thr228_Ser229insAsn
NM_001270525.1:c.707_708insAAA	NP_001257454.1:p.Thr236_Ser237insAsn
NM_021728.3:c.707_708insAAA	NP_068374.1:p.Thr236_Ser237insAsn
NM_172337.2:c.683_684insAAA	NP_758840.1:p.Thr228_Ser229insAsn
NR_073034.1:n.815_816insAAA
NR_073036.1:n.738_739insAAA
NM_001270523.2:c.683_684insAAA	NP_001257452.1:p.Thr228_Ser229insAsn
NM_001270524.2:c.683_684insAAA	NP_001257453.1:p.Thr228_Ser229insAsn
NM_001270525.2:c.707_708insAAA	NP_001257454.1:p.Thr236_Ser237insAsn
NM_021728.4:c.707_708insAAA MANE Select	NP_068374.1:p.Thr236_Ser237insAsn
NM_172337.3:c.683_684insAAA	NP_758840.1:p.Thr228_Ser229insAsn
NR_073034.2:n.818_819insAAA
NR_073036.2:n.742_743insAAA