Canonical Allele Identifier: CA7200429

Gene: OTX2

Linked Data

• ClinVar Variation Id: 839839
• ClinVar RCV Id: RCV001041689 ; RCV003130112 ; RCV003243417
• dbSNP Id: rs199650198
• ExAC: 14:57268604 G / A
• gnomAD v2: 14-57268604-G-A
• gnomAD v3: 14-56801886-G-A
• gnomAD v4: 14-56801886-G-A
• MyVariant Identifiers: chr14:g.57268604G>A (hg19) ; chr14:g.56801886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801886G>A , CM000676.2:g.56801886G>A	GRCh38
NC_000014.8:g.57268604G>A , CM000676.1:g.57268604G>A	GRCh37
NC_000014.7:g.56338357G>A	NCBI36
NG_008204.1:g.13581C>T
NG_008204.2:g.19808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.743C>T	ENSP00000451357.2:p.Thr248Ile
ENST00000555804.2:c.719C>T	ENSP00000451272.2:p.Thr240Ile
ENST00000685244.1:c.719C>T	ENSP00000508798.1:p.Thr240Ile
ENST00000339475.10:c.719C>T	ENSP00000343819.5:p.Thr240Ile
ENST00000408990.8:c.719C>T	ENSP00000386185.3:p.Thr240Ile
ENST00000672125.1:c.361-5C>T	ENSP00000500744.1:n.361-5C>T
ENST00000672264.2:c.743C>T MANE Select	ENSP00000500115.1:p.Thr248Ile
ENST00000673035.1:c.719C>T	ENSP00000500061.1:p.Thr240Ile
ENST00000673481.1:c.743C>T	ENSP00000500595.1:p.Thr248Ile
ENST00000339475.9:c.743C>T	ENSP00000343819.4:p.Thr248Ile
ENST00000408990.7:c.719C>T	ENSP00000386185.3:p.Thr240Ile
ENST00000554788.5:c.*459C>T	ENSP00000474486.1:n.*459C>T
ENST00000555006.5:c.719C>T	ENSP00000452336.1:p.Thr240Ile
NM_001270523.1:c.719C>T	NP_001257452.1:p.Thr240Ile
NM_001270524.1:c.719C>T	NP_001257453.1:p.Thr240Ile
NM_001270525.1:c.743C>T	NP_001257454.1:p.Thr248Ile
NM_021728.3:c.743C>T	NP_068374.1:p.Thr248Ile
NM_172337.2:c.719C>T	NP_758840.1:p.Thr240Ile
NR_073034.1:n.851C>T
NR_073036.1:n.774C>T
NM_001270523.2:c.719C>T	NP_001257452.1:p.Thr240Ile
NM_001270524.2:c.719C>T	NP_001257453.1:p.Thr240Ile
NM_001270525.2:c.743C>T	NP_001257454.1:p.Thr248Ile
NM_021728.4:c.743C>T MANE Select	NP_068374.1:p.Thr248Ile
NM_172337.3:c.719C>T	NP_758840.1:p.Thr240Ile
NR_073034.2:n.854C>T
NR_073036.2:n.778C>T