Canonical Allele Identifier: CA486583287

Gene: OTX2

Linked Data

• MyVariant Identifiers: chr14:g.57268630G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801912G>C , CM000676.2:g.56801912G>C	GRCh38
NC_000014.8:g.57268630G>C , CM000676.1:g.57268630G>C	GRCh37
NC_000014.7:g.56338383G>C	NCBI36
NG_008204.1:g.13555C>G
NG_008204.2:g.19782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.717C>G	ENSP00000451357.2:p.Leu239=
ENST00000555804.2:c.693C>G	ENSP00000451272.2:p.Leu231=
ENST00000685244.1:c.693C>G	ENSP00000508798.1:p.Leu231=
ENST00000339475.10:c.693C>G	ENSP00000343819.5:p.Leu231=
ENST00000408990.8:c.693C>G	ENSP00000386185.3:p.Leu231=
ENST00000672125.1:c.361-31C>G	ENSP00000500744.1:n.361-31C>G
ENST00000672264.2:c.717C>G MANE Select	ENSP00000500115.1:p.Leu239=
ENST00000673035.1:c.693C>G	ENSP00000500061.1:p.Leu231=
ENST00000673481.1:c.717C>G	ENSP00000500595.1:p.Leu239=
ENST00000339475.9:c.717C>G	ENSP00000343819.4:p.Leu239=
ENST00000408990.7:c.693C>G	ENSP00000386185.3:p.Leu231=
ENST00000554788.5:c.*433C>G	ENSP00000474486.1:n.*433C>G
ENST00000555006.5:c.693C>G	ENSP00000452336.1:p.Leu231=
NM_001270523.1:c.693C>G	NP_001257452.1:p.Leu231=
NM_001270524.1:c.693C>G	NP_001257453.1:p.Leu231=
NM_001270525.1:c.717C>G	NP_001257454.1:p.Leu239=
NM_021728.3:c.717C>G	NP_068374.1:p.Leu239=
NM_172337.2:c.693C>G	NP_758840.1:p.Leu231=
NR_073034.1:n.825C>G
NR_073036.1:n.748C>G
NM_001270523.2:c.693C>G	NP_001257452.1:p.Leu231=
NM_001270524.2:c.693C>G	NP_001257453.1:p.Leu231=
NM_001270525.2:c.717C>G	NP_001257454.1:p.Leu239=
NM_021728.4:c.717C>G MANE Select	NP_068374.1:p.Leu239=
NM_172337.3:c.693C>G	NP_758840.1:p.Leu231=
NR_073034.2:n.828C>G
NR_073036.2:n.752C>G