Canonical Allele Identifier: CA126845

Gene: EGR2

Linked Data

• ClinVar Variation Id: 16752
• ClinVar RCV Id: RCV000018236 ; RCV000018237 ; RCV000032120 ; RCV000231023 ; RCV000498897 ; RCV000856959
• dbSNP Id: rs104894161
• MyVariant Identifiers: chr10:g.64573323G>A (hg19) ; chr10:g.62813563G>A (hg38)
• PubMed: PMID:10369870 ; PMID:11523566 ; PMID:15947997 ; PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813563G>A , CM000672.2:g.62813563G>A	GRCh38
NC_000010.10:g.64573323G>A , CM000672.1:g.64573323G>A	GRCh37
NC_000010.9:g.64243329G>A	NCBI36
NG_008936.2:g.111338C>T , LRG_239:g.111338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.925C>T	ENSP00000387634.1:p.Arg309Trp
ENST00000439032.6:c.1615C>T	ENSP00000509775.1:n.1615C>T
ENST00000637191.2:c.1075C>T	ENSP00000490154.2:p.Arg359Trp
ENST00000690143.1:c.*1007C>T	ENSP00000510306.1:n.*1007C>T
ENST00000691610.1:c.1114C>T	ENSP00000509830.1:p.Arg372Trp
ENST00000242480.4:c.1075C>T MANE Select	ENSP00000242480.3:p.Arg359Trp
ENST00000411732.3:c.925C>T	ENSP00000387634.1:p.Arg309Trp
ENST00000639815.1:n.109-601C>T
ENST00000242480.3:c.1075C>T	ENSP00000242480.3:p.Arg359Trp
ENST00000411732.2:c.925C>T	ENSP00000387634.1:p.Arg309Trp
ENST00000439032.4:c.1075C>T	ENSP00000402040.1:p.Arg359Trp
NM_000399.3:c.1075C>T , LRG_239t1:c.1075C>T	NP_000390.2:p.Arg359Trp
NM_001136177.1:c.1075C>T	NP_001129649.1:p.Arg359Trp
NM_001136178.1:c.1075C>T	NP_001129650.1:p.Arg359Trp
NM_001136179.1:c.925C>T	NP_001129651.1:p.Arg309Trp
XM_011539427.1:c.1114C>T	XP_011537729.1:p.Arg372Trp
XM_011539428.1:c.925C>T	XP_011537730.1:p.Arg309Trp
XM_011539429.1:c.925C>T	XP_011537731.1:p.Arg309Trp
NM_000399.4:c.1075C>T	NP_000390.2:p.Arg359Trp
NM_001136177.2:c.1075C>T	NP_001129649.1:p.Arg359Trp
NM_001136179.2:c.925C>T	NP_001129651.1:p.Arg309Trp
NM_001321037.1:c.925C>T	NP_001307966.1:p.Arg309Trp
NM_000399.5:c.1075C>T MANE Select	NP_000390.2:p.Arg359Trp
NM_001136177.3:c.1075C>T	NP_001129649.1:p.Arg359Trp
NM_001136179.3:c.925C>T	NP_001129651.1:p.Arg309Trp
NM_001321037.2:c.925C>T	NP_001307966.1:p.Arg309Trp
NM_001136178.2:c.1075C>T	NP_001129650.1:p.Arg359Trp