Canonical Allele Identifier: CA1914712852
Gene: EGR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813710_62813719delinsAGGCGGCGGC , CM000672.2:g.62813710_62813719delinsAGGCGGCGGC GRCh38
NC_000010.10:g.64573470_64573479delinsAGGCGGCGGC , CM000672.1:g.64573470_64573479delinsAGGCGGCGGC GRCh37
NC_000010.9:g.64243476_64243485delinsAGGCGGCGGC NCBI36
NG_008936.2:g.111182_111191delinsGCCGCCGCCT , LRG_239:g.111182_111191delinsGCCGCCGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.769_778delinsGCCGCCGCCT ENSP00000387634.1:p.Ala257=
ENST00000439032.6:c.1459_1468delinsGCCGCCGCCT ENSP00000509775.1:n.1459_1468delinsGCCGCCGCCT
ENST00000637191.2:c.919_928delinsGCCGCCGCCT ENSP00000490154.2:p.Ala307=
ENST00000690143.1:c.*851_*860delinsGCCGCCGCCT ENSP00000510306.1:n.*851_*860delinsGCCGCCGCCT
ENST00000691610.1:c.958_967delinsGCCGCCGCCT ENSP00000509830.1:p.Ala320=
ENST00000242480.4:c.919_928delinsGCCGCCGCCT MANE Select ENSP00000242480.3:p.Ala307=
ENST00000411732.3:c.769_778delinsGCCGCCGCCT ENSP00000387634.1:p.Ala257=
ENST00000639815.1:n.109-757_109-748delinsGCCGCCGCCT
ENST00000242480.3:c.919_928delinsGCCGCCGCCT ENSP00000242480.3:p.Ala307=
ENST00000411732.2:c.769_778delinsGCCGCCGCCT ENSP00000387634.1:p.Ala257=
ENST00000439032.4:c.919_928delinsGCCGCCGCCT ENSP00000402040.1:p.Ala307=
NM_000399.3:c.919_928delinsGCCGCCGCCT , LRG_239t1:c.919_928delinsGCCGCCGCCT NP_000390.2:p.Ala307=
NM_001136177.1:c.919_928delinsGCCGCCGCCT NP_001129649.1:p.Ala307=
NM_001136178.1:c.919_928delinsGCCGCCGCCT NP_001129650.1:p.Ala307=
NM_001136179.1:c.769_778delinsGCCGCCGCCT NP_001129651.1:p.Ala257=
XM_011539427.1:c.958_967delinsGCCGCCGCCT XP_011537729.1:p.Ala320=
XM_011539428.1:c.769_778delinsGCCGCCGCCT XP_011537730.1:p.Ala257=
XM_011539429.1:c.769_778delinsGCCGCCGCCT XP_011537731.1:p.Ala257=
NM_000399.4:c.919_928delinsGCCGCCGCCT NP_000390.2:p.Ala307=
NM_001136177.2:c.919_928delinsGCCGCCGCCT NP_001129649.1:p.Ala307=
NM_001136179.2:c.769_778delinsGCCGCCGCCT NP_001129651.1:p.Ala257=
NM_001321037.1:c.769_778delinsGCCGCCGCCT NP_001307966.1:p.Ala257=
NM_000399.5:c.919_928delinsGCCGCCGCCT MANE Select NP_000390.2:p.Ala307=
NM_001136177.3:c.919_928delinsGCCGCCGCCT NP_001129649.1:p.Ala307=
NM_001136179.3:c.769_778delinsGCCGCCGCCT NP_001129651.1:p.Ala257=
NM_001321037.2:c.769_778delinsGCCGCCGCCT NP_001307966.1:p.Ala257=
NM_001136178.2:c.919_928delinsGCCGCCGCCT NP_001129650.1:p.Ala307=