Canonical Allele Identifier: CA5517195

Gene: EGR2

Linked Data

• ClinVar Variation Id: 857535
• ClinVar RCV Id: RCV001063230 ; RCV002374962
• dbSNP Id: rs753747037
• ExAC: 10:64573470 AGGC / A
• gnomAD v2: 10-64573470-AGGC-A
• gnomAD v3: 10-62813710-AGGC-A
• gnomAD v4: 10-62813710-AGGC-A
• COSMIC: COSM1348558
• MyVariant Identifiers: chr10:g.64573477_64573479del (hg19) ; chr10:g.64573471_64573473del (hg19) ; chr10:g.62813717_62813719del (hg38) ; chr10:g.62813711_62813713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813726_62813728del , CM000672.2:g.62813726_62813728del	GRCh38
NC_000010.10:g.64573486_64573488del , CM000672.1:g.64573486_64573488del	GRCh37
NC_000010.9:g.64243492_64243494del	NCBI36
NG_008936.2:g.111188_111190del , LRG_239:g.111188_111190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.775_777del	ENSP00000387634.1:p.Ala259del
ENST00000439032.6:c.1465_1467del	ENSP00000509775.1:n.1465_1467del
ENST00000637191.2:c.925_927del	ENSP00000490154.2:p.Ala309del
ENST00000690143.1:c.*857_*859del	ENSP00000510306.1:n.*857_*859del
ENST00000691610.1:c.964_966del	ENSP00000509830.1:p.Ala322del
ENST00000242480.4:c.925_927del MANE Select	ENSP00000242480.3:p.Ala309del
ENST00000411732.3:c.775_777del	ENSP00000387634.1:p.Ala259del
ENST00000639815.1:n.109-751_109-749del
ENST00000242480.3:c.925_927del	ENSP00000242480.3:p.Ala309del
ENST00000411732.2:c.775_777del	ENSP00000387634.1:p.Ala259del
ENST00000439032.4:c.925_927del	ENSP00000402040.1:p.Ala309del
NM_000399.3:c.925_927del , LRG_239t1:c.925_927del	NP_000390.2:p.Ala309del
NM_001136177.1:c.925_927del	NP_001129649.1:p.Ala309del
NM_001136178.1:c.925_927del	NP_001129650.1:p.Ala309del
NM_001136179.1:c.775_777del	NP_001129651.1:p.Ala259del
XM_011539427.1:c.964_966del	XP_011537729.1:p.Ala322del
XM_011539428.1:c.775_777del	XP_011537730.1:p.Ala259del
XM_011539429.1:c.775_777del	XP_011537731.1:p.Ala259del
NM_000399.4:c.925_927del	NP_000390.2:p.Ala309del
NM_001136177.2:c.925_927del	NP_001129649.1:p.Ala309del
NM_001136179.2:c.775_777del	NP_001129651.1:p.Ala259del
NM_001321037.1:c.775_777del	NP_001307966.1:p.Ala259del
NM_000399.5:c.925_927del MANE Select	NP_000390.2:p.Ala309del
NM_001136177.3:c.925_927del	NP_001129649.1:p.Ala309del
NM_001136179.3:c.775_777del	NP_001129651.1:p.Ala259del
NM_001321037.2:c.775_777del	NP_001307966.1:p.Ala259del
NM_001136178.2:c.925_927del	NP_001129650.1:p.Ala309del