Canonical Allele Identifier: CA377028567

Gene: EGR2

Linked Data

• ClinVar Variation Id: 1001167
• ClinVar RCV Id: RCV001297421
• dbSNP Id: rs1842182998
• gnomAD v4: 10-62813770-C-T
• MyVariant Identifiers: chr10:g.64573530C>T (hg19) ; chr10:g.62813770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813770C>T , CM000672.2:g.62813770C>T	GRCh38
NC_000010.10:g.64573530C>T , CM000672.1:g.64573530C>T	GRCh37
NC_000010.9:g.64243536C>T	NCBI36
NG_008936.2:g.111131G>A , LRG_239:g.111131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.718G>A	ENSP00000387634.1:p.Glu240Lys
ENST00000439032.6:c.1408G>A	ENSP00000509775.1:n.1408G>A
ENST00000637191.2:c.868G>A	ENSP00000490154.2:p.Glu290Lys
ENST00000690143.1:c.*800G>A	ENSP00000510306.1:n.*800G>A
ENST00000691610.1:c.907G>A	ENSP00000509830.1:p.Glu303Lys
ENST00000242480.4:c.868G>A MANE Select	ENSP00000242480.3:p.Glu290Lys
ENST00000411732.3:c.718G>A	ENSP00000387634.1:p.Glu240Lys
ENST00000639815.1:n.109-808G>A
ENST00000242480.3:c.868G>A	ENSP00000242480.3:p.Glu290Lys
ENST00000411732.2:c.718G>A	ENSP00000387634.1:p.Glu240Lys
ENST00000439032.4:c.868G>A	ENSP00000402040.1:p.Glu290Lys
NM_000399.3:c.868G>A , LRG_239t1:c.868G>A	NP_000390.2:p.Glu290Lys
NM_001136177.1:c.868G>A	NP_001129649.1:p.Glu290Lys
NM_001136178.1:c.868G>A	NP_001129650.1:p.Glu290Lys
NM_001136179.1:c.718G>A	NP_001129651.1:p.Glu240Lys
XM_011539427.1:c.907G>A	XP_011537729.1:p.Glu303Lys
XM_011539428.1:c.718G>A	XP_011537730.1:p.Glu240Lys
XM_011539429.1:c.718G>A	XP_011537731.1:p.Glu240Lys
NM_000399.4:c.868G>A	NP_000390.2:p.Glu290Lys
NM_001136177.2:c.868G>A	NP_001129649.1:p.Glu290Lys
NM_001136179.2:c.718G>A	NP_001129651.1:p.Glu240Lys
NM_001321037.1:c.718G>A	NP_001307966.1:p.Glu240Lys
NM_000399.5:c.868G>A MANE Select	NP_000390.2:p.Glu290Lys
NM_001136177.3:c.868G>A	NP_001129649.1:p.Glu290Lys
NM_001136179.3:c.718G>A	NP_001129651.1:p.Glu240Lys
NM_001321037.2:c.718G>A	NP_001307966.1:p.Glu240Lys
NM_001136178.2:c.868G>A	NP_001129650.1:p.Glu290Lys