Canonical Allele Identifier: CA1139661455

Gene: EGR2

Linked Data

• ClinVar Variation Id: 944102
• ClinVar RCV Id: RCV001214430
• dbSNP Id: rs1842160144

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813328del , CM000672.2:g.62813328del	GRCh38
NC_000010.10:g.64573088del , CM000672.1:g.64573088del	GRCh37
NC_000010.9:g.64243094del	NCBI36
NG_008936.2:g.111577del , LRG_239:g.111577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.1164del	ENSP00000387634.1:p.Ser389LeufsTer?
ENST00000439032.6:c.1854del	ENSP00000509775.1:n.1854del
ENST00000637191.2:c.1314del	ENSP00000490154.2:p.Ser439LeufsTer?
ENST00000690143.1:c.*1246del	ENSP00000510306.1:n.*1246del
ENST00000691610.1:c.1353del	ENSP00000509830.1:p.Ser452LeufsTer?
ENST00000242480.4:c.1314del MANE Select	ENSP00000242480.3:p.Ser439LeufsTer?
ENST00000411732.3:c.1164del	ENSP00000387634.1:p.Ser389LeufsTer?
ENST00000639815.1:n.109-362del
ENST00000242480.3:c.1314del	ENSP00000242480.3:p.Ser439LeufsTer?
ENST00000411732.2:c.1164del	ENSP00000387634.1:p.Ser389LeufsTer?
ENST00000439032.4:c.1314del	ENSP00000402040.1:p.Ser439LeufsTer?
NM_000399.3:c.1314del , LRG_239t1:c.1314del	NP_000390.2:p.Ser439LeufsTer?
NM_001136177.1:c.1314del	NP_001129649.1:p.Ser439LeufsTer?
NM_001136178.1:c.1314del	NP_001129650.1:p.Ser439LeufsTer?
NM_001136179.1:c.1164del	NP_001129651.1:p.Ser389LeufsTer?
XM_011539427.1:c.1353del	XP_011537729.1:p.Ser452LeufsTer?
XM_011539428.1:c.1164del	XP_011537730.1:p.Ser389LeufsTer?
XM_011539429.1:c.1164del	XP_011537731.1:p.Ser389LeufsTer?
NM_000399.4:c.1314del	NP_000390.2:p.Ser439LeufsTer?
NM_001136177.2:c.1314del	NP_001129649.1:p.Ser439LeufsTer?
NM_001136179.2:c.1164del	NP_001129651.1:p.Ser389LeufsTer?
NM_001321037.1:c.1164del	NP_001307966.1:p.Ser389LeufsTer?
NM_000399.5:c.1314del MANE Select	NP_000390.2:p.Ser439LeufsTer?
NM_001136177.3:c.1314del	NP_001129649.1:p.Ser439LeufsTer?
NM_001136179.3:c.1164del	NP_001129651.1:p.Ser389LeufsTer?
NM_001321037.2:c.1164del	NP_001307966.1:p.Ser389LeufsTer?
NM_001136178.2:c.1314del	NP_001129650.1:p.Ser439LeufsTer?