Canonical Allele Identifier: CA915945923

Gene: EGR2

Linked Data

• ClinVar Variation Id: 645916
• ClinVar RCV Id: RCV000800092
• dbSNP Id: rs1589080330

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813365_62813366del , CM000672.2:g.62813365_62813366del	GRCh38
NC_000010.10:g.64573125_64573126del , CM000672.1:g.64573125_64573126del	GRCh37
NC_000010.9:g.64243131_64243132del	NCBI36
NG_008936.2:g.111537_111538del , LRG_239:g.111537_111538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.1124_1125del	ENSP00000387634.1:p.Glu375AlafsTer?
ENST00000439032.6:c.1814_1815del	ENSP00000509775.1:n.1814_1815del
ENST00000637191.2:c.1274_1275del	ENSP00000490154.2:p.Glu425AlafsTer?
ENST00000690143.1:c.*1206_*1207del	ENSP00000510306.1:n.*1206_*1207del
ENST00000691610.1:c.1313_1314del	ENSP00000509830.1:p.Glu438AlafsTer?
ENST00000242480.4:c.1274_1275del MANE Select	ENSP00000242480.3:p.Glu425AlafsTer?
ENST00000411732.3:c.1124_1125del	ENSP00000387634.1:p.Glu375AlafsTer?
ENST00000639815.1:n.109-402_109-401del
ENST00000242480.3:c.1274_1275del	ENSP00000242480.3:p.Glu425AlafsTer?
ENST00000411732.2:c.1124_1125del	ENSP00000387634.1:p.Glu375AlafsTer?
ENST00000439032.4:c.1274_1275del	ENSP00000402040.1:p.Glu425AlafsTer?
NM_000399.3:c.1274_1275del , LRG_239t1:c.1274_1275del	NP_000390.2:p.Glu425AlafsTer?
NM_001136177.1:c.1274_1275del	NP_001129649.1:p.Glu425AlafsTer?
NM_001136178.1:c.1274_1275del	NP_001129650.1:p.Glu425AlafsTer?
NM_001136179.1:c.1124_1125del	NP_001129651.1:p.Glu375AlafsTer?
XM_011539427.1:c.1313_1314del	XP_011537729.1:p.Glu438AlafsTer?
XM_011539428.1:c.1124_1125del	XP_011537730.1:p.Glu375AlafsTer?
XM_011539429.1:c.1124_1125del	XP_011537731.1:p.Glu375AlafsTer?
NM_000399.4:c.1274_1275del	NP_000390.2:p.Glu425AlafsTer?
NM_001136177.2:c.1274_1275del	NP_001129649.1:p.Glu425AlafsTer?
NM_001136179.2:c.1124_1125del	NP_001129651.1:p.Glu375AlafsTer?
NM_001321037.1:c.1124_1125del	NP_001307966.1:p.Glu375AlafsTer?
NM_000399.5:c.1274_1275del MANE Select	NP_000390.2:p.Glu425AlafsTer?
NM_001136177.3:c.1274_1275del	NP_001129649.1:p.Glu425AlafsTer?
NM_001136179.3:c.1124_1125del	NP_001129651.1:p.Glu375AlafsTer?
NM_001321037.2:c.1124_1125del	NP_001307966.1:p.Glu375AlafsTer?
NM_001136178.2:c.1274_1275del	NP_001129650.1:p.Glu425AlafsTer?