Canonical Allele Identifier: CA343874

Gene: EGR2

Linked Data

• ClinVar Variation Id: 41008
• ClinVar RCV Id: RCV000033901 ; RCV000701335 ; RCV000789745 ; RCV002472942
• dbSNP Id: rs281865137
• MyVariant Identifiers: chr10:g.64573256C>T (hg19) ; chr10:g.62813496C>T (hg38)
• PubMed: PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813496C>T , CM000672.2:g.62813496C>T	GRCh38
NC_000010.10:g.64573256C>T , CM000672.1:g.64573256C>T	GRCh37
NC_000010.9:g.64243262C>T	NCBI36
NG_008936.2:g.111405G>A , LRG_239:g.111405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.992G>A	ENSP00000387634.1:p.Arg331His
ENST00000439032.6:c.1682G>A	ENSP00000509775.1:n.1682G>A
ENST00000637191.2:c.1142G>A	ENSP00000490154.2:p.Arg381His
ENST00000690143.1:c.*1074G>A	ENSP00000510306.1:n.*1074G>A
ENST00000691610.1:c.1181G>A	ENSP00000509830.1:p.Arg394His
ENST00000242480.4:c.1142G>A MANE Select	ENSP00000242480.3:p.Arg381His
ENST00000411732.3:c.992G>A	ENSP00000387634.1:p.Arg331His
ENST00000639815.1:n.109-534G>A
ENST00000242480.3:c.1142G>A	ENSP00000242480.3:p.Arg381His
ENST00000411732.2:c.992G>A	ENSP00000387634.1:p.Arg331His
ENST00000439032.4:c.1142G>A	ENSP00000402040.1:p.Arg381His
NM_000399.3:c.1142G>A , LRG_239t1:c.1142G>A	NP_000390.2:p.Arg381His
NM_001136177.1:c.1142G>A	NP_001129649.1:p.Arg381His
NM_001136178.1:c.1142G>A	NP_001129650.1:p.Arg381His
NM_001136179.1:c.992G>A	NP_001129651.1:p.Arg331His
XM_011539427.1:c.1181G>A	XP_011537729.1:p.Arg394His
XM_011539428.1:c.992G>A	XP_011537730.1:p.Arg331His
XM_011539429.1:c.992G>A	XP_011537731.1:p.Arg331His
NM_000399.4:c.1142G>A	NP_000390.2:p.Arg381His
NM_001136177.2:c.1142G>A	NP_001129649.1:p.Arg381His
NM_001136179.2:c.992G>A	NP_001129651.1:p.Arg331His
NM_001321037.1:c.992G>A	NP_001307966.1:p.Arg331His
NM_000399.5:c.1142G>A MANE Select	NP_000390.2:p.Arg381His
NM_001136177.3:c.1142G>A	NP_001129649.1:p.Arg381His
NM_001136179.3:c.992G>A	NP_001129651.1:p.Arg331His
NM_001321037.2:c.992G>A	NP_001307966.1:p.Arg331His
NM_001136178.2:c.1142G>A	NP_001129650.1:p.Arg381His