Canonical Allele Identifier: CA5517197

Gene: EGR2

Linked Data

• ClinVar Variation Id: 842568
• ClinVar RCV Id: RCV001045004 ; RCV002276600
• dbSNP Id: rs753747037
• ExAC: 10:64573470 A / AGGCGGC
• gnomAD v2: 10-64573470-A-AGGCGGC
• gnomAD v3: 10-62813710-A-AGGCGGC
• gnomAD v4: 10-62813710-A-AGGCGGC
• MyVariant Identifiers: chr10:g.64573479_64573480insGGCGGC (hg19) ; chr10:g.64573470_64573471insGGCGGC (hg19) ; chr10:g.62813719_62813720insGGCGGC (hg38) ; chr10:g.62813710_62813711insGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813723_62813728dup , CM000672.2:g.62813723_62813728dup	GRCh38
NC_000010.10:g.64573483_64573488dup , CM000672.1:g.64573483_64573488dup	GRCh37
NC_000010.9:g.64243489_64243494dup	NCBI36
NG_008936.2:g.111185_111190dup , LRG_239:g.111185_111190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.772_777dup	ENSP00000387634.1:p.Ala259_Tyr260insAlaAla
ENST00000439032.6:c.1462_1467dup	ENSP00000509775.1:n.1462_1467dup
ENST00000637191.2:c.922_927dup	ENSP00000490154.2:p.Ala309_Tyr310insAlaAla
ENST00000690143.1:c.*854_*859dup	ENSP00000510306.1:n.*854_*859dup
ENST00000691610.1:c.961_966dup	ENSP00000509830.1:p.Ala322_Tyr323insAlaAla
ENST00000242480.4:c.922_927dup MANE Select	ENSP00000242480.3:p.Ala309_Tyr310insAlaAla
ENST00000411732.3:c.772_777dup	ENSP00000387634.1:p.Ala259_Tyr260insAlaAla
ENST00000639815.1:n.109-754_109-749dup
ENST00000242480.3:c.922_927dup	ENSP00000242480.3:p.Ala309_Tyr310insAlaAla
ENST00000411732.2:c.772_777dup	ENSP00000387634.1:p.Ala259_Tyr260insAlaAla
ENST00000439032.4:c.922_927dup	ENSP00000402040.1:p.Ala309_Tyr310insAlaAla
NM_000399.3:c.922_927dup , LRG_239t1:c.922_927dup	NP_000390.2:p.Ala309_Tyr310insAlaAla
NM_001136177.1:c.922_927dup	NP_001129649.1:p.Ala309_Tyr310insAlaAla
NM_001136178.1:c.922_927dup	NP_001129650.1:p.Ala309_Tyr310insAlaAla
NM_001136179.1:c.772_777dup	NP_001129651.1:p.Ala259_Tyr260insAlaAla
XM_011539427.1:c.961_966dup	XP_011537729.1:p.Ala322_Tyr323insAlaAla
XM_011539428.1:c.772_777dup	XP_011537730.1:p.Ala259_Tyr260insAlaAla
XM_011539429.1:c.772_777dup	XP_011537731.1:p.Ala259_Tyr260insAlaAla
NM_000399.4:c.922_927dup	NP_000390.2:p.Ala309_Tyr310insAlaAla
NM_001136177.2:c.922_927dup	NP_001129649.1:p.Ala309_Tyr310insAlaAla
NM_001136179.2:c.772_777dup	NP_001129651.1:p.Ala259_Tyr260insAlaAla
NM_001321037.1:c.772_777dup	NP_001307966.1:p.Ala259_Tyr260insAlaAla
NM_000399.5:c.922_927dup MANE Select	NP_000390.2:p.Ala309_Tyr310insAlaAla
NM_001136177.3:c.922_927dup	NP_001129649.1:p.Ala309_Tyr310insAlaAla
NM_001136179.3:c.772_777dup	NP_001129651.1:p.Ala259_Tyr260insAlaAla
NM_001321037.2:c.772_777dup	NP_001307966.1:p.Ala259_Tyr260insAlaAla
NM_001136178.2:c.922_927dup	NP_001129650.1:p.Ala309_Tyr310insAlaAla