Canonical Allele Identifier: CA5517174
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256013
dbSNP Id: rs45602133

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813552T>G , CM000672.2:g.62813552T>G GRCh38
NC_000010.10:g.64573312T>G , CM000672.1:g.64573312T>G GRCh37
NC_000010.9:g.64243318T>G NCBI36
NG_008936.2:g.111349A>C , LRG_239:g.111349A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.936A>C ENSP00000387634.1:p.Arg312=
ENST00000439032.6:c.1626A>C ENSP00000509775.1:n.1626A>C
ENST00000637191.2:c.1086A>C ENSP00000490154.2:p.Arg362=
ENST00000690143.1:c.*1018A>C ENSP00000510306.1:n.*1018A>C
ENST00000691610.1:c.1125A>C ENSP00000509830.1:p.Arg375=
ENST00000242480.4:c.1086A>C MANE Select ENSP00000242480.3:p.Arg362=
ENST00000411732.3:c.936A>C ENSP00000387634.1:p.Arg312=
ENST00000639815.1:n.109-590A>C
ENST00000242480.3:c.1086A>C ENSP00000242480.3:p.Arg362=
ENST00000411732.2:c.936A>C ENSP00000387634.1:p.Arg312=
ENST00000439032.4:c.1086A>C ENSP00000402040.1:p.Arg362=
NM_000399.3:c.1086A>C , LRG_239t1:c.1086A>C NP_000390.2:p.Arg362=
NM_001136177.1:c.1086A>C NP_001129649.1:p.Arg362=
NM_001136178.1:c.1086A>C NP_001129650.1:p.Arg362=
NM_001136179.1:c.936A>C NP_001129651.1:p.Arg312=
XM_011539427.1:c.1125A>C XP_011537729.1:p.Arg375=
XM_011539428.1:c.936A>C XP_011537730.1:p.Arg312=
XM_011539429.1:c.936A>C XP_011537731.1:p.Arg312=
NM_000399.4:c.1086A>C NP_000390.2:p.Arg362=
NM_001136177.2:c.1086A>C NP_001129649.1:p.Arg362=
NM_001136179.2:c.936A>C NP_001129651.1:p.Arg312=
NM_001321037.1:c.936A>C NP_001307966.1:p.Arg312=
NM_000399.5:c.1086A>C MANE Select NP_000390.2:p.Arg362=
NM_001136177.3:c.1086A>C NP_001129649.1:p.Arg362=
NM_001136179.3:c.936A>C NP_001129651.1:p.Arg312=
NM_001321037.2:c.936A>C NP_001307966.1:p.Arg312=
NM_001136178.2:c.1086A>C NP_001129650.1:p.Arg362=