Canonical Allele Identifier: CA486583242

Gene: OTX2

Linked Data

• dbSNP Id: rs1358330775
• gnomAD v2: 14-57268581-A-G
• gnomAD v4: 14-56801863-A-G
• MyVariant Identifiers: chr14:g.57268581A>G (hg19) ; chr14:g.56801863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.56801863A>G , CM000676.2:g.56801863A>G	GRCh38
NC_000014.8:g.57268581A>G , CM000676.1:g.57268581A>G	GRCh37
NC_000014.7:g.56338334A>G	NCBI36
NG_008204.1:g.13604T>C
NG_008204.2:g.19831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000554845.2:c.766T>C	ENSP00000451357.2:p.Leu256=
ENST00000555804.2:c.742T>C	ENSP00000451272.2:p.Leu248=
ENST00000685244.1:c.742T>C	ENSP00000508798.1:p.Leu248=
ENST00000339475.10:c.742T>C	ENSP00000343819.5:p.Leu248=
ENST00000408990.8:c.742T>C	ENSP00000386185.3:p.Leu248=
ENST00000672125.1:c.379T>C	ENSP00000500744.1:p.Leu127=
ENST00000672264.2:c.766T>C MANE Select	ENSP00000500115.1:p.Leu256=
ENST00000673035.1:c.742T>C	ENSP00000500061.1:p.Leu248=
ENST00000673481.1:c.766T>C	ENSP00000500595.1:p.Leu256=
ENST00000339475.9:c.766T>C	ENSP00000343819.4:p.Leu256=
ENST00000408990.7:c.742T>C	ENSP00000386185.3:p.Leu248=
ENST00000554788.5:c.*482T>C	ENSP00000474486.1:n.*482T>C
ENST00000555006.5:c.742T>C	ENSP00000452336.1:p.Leu248=
NM_001270523.1:c.742T>C	NP_001257452.1:p.Leu248=
NM_001270524.1:c.742T>C	NP_001257453.1:p.Leu248=
NM_001270525.1:c.766T>C	NP_001257454.1:p.Leu256=
NM_021728.3:c.766T>C	NP_068374.1:p.Leu256=
NM_172337.2:c.742T>C	NP_758840.1:p.Leu248=
NR_073034.1:n.874T>C
NR_073036.1:n.797T>C
NM_001270523.2:c.742T>C	NP_001257452.1:p.Leu248=
NM_001270524.2:c.742T>C	NP_001257453.1:p.Leu248=
NM_001270525.2:c.766T>C	NP_001257454.1:p.Leu256=
NM_021728.4:c.766T>C MANE Select	NP_068374.1:p.Leu256=
NM_172337.3:c.742T>C	NP_758840.1:p.Leu248=
NR_073034.2:n.877T>C
NR_073036.2:n.801T>C