Canonical Allele Identifier: CA16606029

Gene: EGR2

Linked Data

• ClinVar Variation Id: 391755
• ClinVar RCV Id: RCV000433767 ; RCV000638173
• dbSNP Id: rs751448371
• MyVariant Identifiers: chr10:g.64573332C>G (hg19) ; chr10:g.62813572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813572C>G , CM000672.2:g.62813572C>G	GRCh38
NC_000010.10:g.64573332C>G , CM000672.1:g.64573332C>G	GRCh37
NC_000010.9:g.64243338C>G	NCBI36
NG_008936.2:g.111329G>C , LRG_239:g.111329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.916G>C	ENSP00000387634.1:p.Glu306Gln
ENST00000439032.6:c.1606G>C	ENSP00000509775.1:n.1606G>C
ENST00000637191.2:c.1066G>C	ENSP00000490154.2:p.Glu356Gln
ENST00000690143.1:c.*998G>C	ENSP00000510306.1:n.*998G>C
ENST00000691610.1:c.1105G>C	ENSP00000509830.1:p.Glu369Gln
ENST00000242480.4:c.1066G>C MANE Select	ENSP00000242480.3:p.Glu356Gln
ENST00000411732.3:c.916G>C	ENSP00000387634.1:p.Glu306Gln
ENST00000639815.1:n.109-610G>C
ENST00000242480.3:c.1066G>C	ENSP00000242480.3:p.Glu356Gln
ENST00000411732.2:c.916G>C	ENSP00000387634.1:p.Glu306Gln
ENST00000439032.4:c.1066G>C	ENSP00000402040.1:p.Glu356Gln
NM_000399.3:c.1066G>C , LRG_239t1:c.1066G>C	NP_000390.2:p.Glu356Gln
NM_001136177.1:c.1066G>C	NP_001129649.1:p.Glu356Gln
NM_001136178.1:c.1066G>C	NP_001129650.1:p.Glu356Gln
NM_001136179.1:c.916G>C	NP_001129651.1:p.Glu306Gln
XM_011539427.1:c.1105G>C	XP_011537729.1:p.Glu369Gln
XM_011539428.1:c.916G>C	XP_011537730.1:p.Glu306Gln
XM_011539429.1:c.916G>C	XP_011537731.1:p.Glu306Gln
NM_000399.4:c.1066G>C	NP_000390.2:p.Glu356Gln
NM_001136177.2:c.1066G>C	NP_001129649.1:p.Glu356Gln
NM_001136179.2:c.916G>C	NP_001129651.1:p.Glu306Gln
NM_001321037.1:c.916G>C	NP_001307966.1:p.Glu306Gln
NM_000399.5:c.1066G>C MANE Select	NP_000390.2:p.Glu356Gln
NM_001136177.3:c.1066G>C	NP_001129649.1:p.Glu356Gln
NM_001136179.3:c.916G>C	NP_001129651.1:p.Glu306Gln
NM_001321037.2:c.916G>C	NP_001307966.1:p.Glu306Gln
NM_001136178.2:c.1066G>C	NP_001129650.1:p.Glu356Gln