Canonical Allele Identifier: CA1914712601

Gene: EGR2

Linked Data

• ClinVar Variation Id: 2087180
• ClinVar RCV Id: RCV003007856
• dbSNP Id: rs1842162579

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813367_62813370del , CM000672.2:g.62813367_62813370del	GRCh38
NC_000010.10:g.64573127_64573130del , CM000672.1:g.64573127_64573130del	GRCh37
NC_000010.9:g.64243133_64243136del	NCBI36
NG_008936.2:g.111534_111537del , LRG_239:g.111534_111537del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.1121_1124del	ENSP00000387634.1:p.Lys374SerfsTer?
ENST00000439032.6:c.1811_1814del	ENSP00000509775.1:n.1811_1814del
ENST00000637191.2:c.1271_1274del	ENSP00000490154.2:p.Lys424SerfsTer?
ENST00000690143.1:c.*1203_*1206del	ENSP00000510306.1:n.*1203_*1206del
ENST00000691610.1:c.1310_1313del	ENSP00000509830.1:p.Lys437SerfsTer?
ENST00000242480.4:c.1271_1274del MANE Select	ENSP00000242480.3:p.Lys424SerfsTer?
ENST00000411732.3:c.1121_1124del	ENSP00000387634.1:p.Lys374SerfsTer?
ENST00000639815.1:n.109-405_109-402del
ENST00000242480.3:c.1271_1274del	ENSP00000242480.3:p.Lys424SerfsTer?
ENST00000411732.2:c.1121_1124del	ENSP00000387634.1:p.Lys374SerfsTer?
ENST00000439032.4:c.1271_1274del	ENSP00000402040.1:p.Lys424SerfsTer?
NM_000399.3:c.1271_1274del , LRG_239t1:c.1271_1274del	NP_000390.2:p.Lys424SerfsTer?
NM_001136177.1:c.1271_1274del	NP_001129649.1:p.Lys424SerfsTer?
NM_001136178.1:c.1271_1274del	NP_001129650.1:p.Lys424SerfsTer?
NM_001136179.1:c.1121_1124del	NP_001129651.1:p.Lys374SerfsTer?
XM_011539427.1:c.1310_1313del	XP_011537729.1:p.Lys437SerfsTer?
XM_011539428.1:c.1121_1124del	XP_011537730.1:p.Lys374SerfsTer?
XM_011539429.1:c.1121_1124del	XP_011537731.1:p.Lys374SerfsTer?
NM_000399.4:c.1271_1274del	NP_000390.2:p.Lys424SerfsTer?
NM_001136177.2:c.1271_1274del	NP_001129649.1:p.Lys424SerfsTer?
NM_001136179.2:c.1121_1124del	NP_001129651.1:p.Lys374SerfsTer?
NM_001321037.1:c.1121_1124del	NP_001307966.1:p.Lys374SerfsTer?
NM_000399.5:c.1271_1274del MANE Select	NP_000390.2:p.Lys424SerfsTer?
NM_001136177.3:c.1271_1274del	NP_001129649.1:p.Lys424SerfsTer?
NM_001136179.3:c.1121_1124del	NP_001129651.1:p.Lys374SerfsTer?
NM_001321037.2:c.1121_1124del	NP_001307966.1:p.Lys374SerfsTer?
NM_001136178.2:c.1271_1274del	NP_001129650.1:p.Lys424SerfsTer?