Canonical Allele Identifier: CA390051150

Gene: OTX2

Linked Data

• gnomAD v4: 14-56801852-G-C
• MyVariant Identifiers: chr14:g.57268570G>C (hg19) ; chr14:g.56801852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801852G>C , CM000676.2:g.56801852G>C	GRCh38
NC_000014.8:g.57268570G>C , CM000676.1:g.57268570G>C	GRCh37
NC_000014.7:g.56338323G>C	NCBI36
NG_008204.1:g.13615C>G
NG_008204.2:g.19842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.777C>G	ENSP00000451357.2:p.Asn259Lys
ENST00000555804.2:c.753C>G	ENSP00000451272.2:p.Asn251Lys
ENST00000685244.1:c.753C>G	ENSP00000508798.1:p.Asn251Lys
ENST00000339475.10:c.753C>G	ENSP00000343819.5:p.Asn251Lys
ENST00000408990.8:c.753C>G	ENSP00000386185.3:p.Asn251Lys
ENST00000672125.1:c.390C>G	ENSP00000500744.1:p.Asn130Lys
ENST00000672264.2:c.777C>G MANE Select	ENSP00000500115.1:p.Asn259Lys
ENST00000673035.1:c.753C>G	ENSP00000500061.1:p.Asn251Lys
ENST00000673481.1:c.777C>G	ENSP00000500595.1:p.Asn259Lys
ENST00000339475.9:c.777C>G	ENSP00000343819.4:p.Asn259Lys
ENST00000408990.7:c.753C>G	ENSP00000386185.3:p.Asn251Lys
ENST00000554788.5:c.*493C>G	ENSP00000474486.1:n.*493C>G
ENST00000555006.5:c.753C>G	ENSP00000452336.1:p.Asn251Lys
NM_001270523.1:c.753C>G	NP_001257452.1:p.Asn251Lys
NM_001270524.1:c.753C>G	NP_001257453.1:p.Asn251Lys
NM_001270525.1:c.777C>G	NP_001257454.1:p.Asn259Lys
NM_021728.3:c.777C>G	NP_068374.1:p.Asn259Lys
NM_172337.2:c.753C>G	NP_758840.1:p.Asn251Lys
NR_073034.1:n.885C>G
NR_073036.1:n.808C>G
NM_001270523.2:c.753C>G	NP_001257452.1:p.Asn251Lys
NM_001270524.2:c.753C>G	NP_001257453.1:p.Asn251Lys
NM_001270525.2:c.777C>G	NP_001257454.1:p.Asn259Lys
NM_021728.4:c.777C>G MANE Select	NP_068374.1:p.Asn259Lys
NM_172337.3:c.753C>G	NP_758840.1:p.Asn251Lys
NR_073034.2:n.888C>G
NR_073036.2:n.812C>G