Canonical Allele Identifier: CA1914712671
Community Standard Title: NM_000399.5(EGR2):c.1225C= (p.Arg409=)
Gene: EGR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813413G= , CM000672.2:g.62813413G= GRCh38
NC_000010.10:g.64573173G= , CM000672.1:g.64573173G= GRCh37
NC_000010.9:g.64243179G= NCBI36
NG_008936.2:g.111488C= , LRG_239:g.111488C=

Transcript Alleles

HGVS Amino-acid Change
NM_000399.5:c.1225C= MANE Select NP_000390.2:p.Arg409=
ENST00000242480.4:c.1225C= MANE Select ENSP00000242480.3:p.Arg409=
NM_000399.3:c.1225C= , LRG_239t1:c.1225C= NP_000390.2:p.Arg409=
NM_000399.4:c.1225C= NP_000390.2:p.Arg409=
NM_001136177.1:c.1225C= NP_001129649.1:p.Arg409=
NM_001136177.2:c.1225C= NP_001129649.1:p.Arg409=
NM_001136177.3:c.1225C= NP_001129649.1:p.Arg409=
NM_001136178.1:c.1225C= NP_001129650.1:p.Arg409=
NM_001136178.2:c.1225C= NP_001129650.1:p.Arg409=
NM_001136179.1:c.1075C= NP_001129651.1:p.Arg359=
NM_001136179.2:c.1075C= NP_001129651.1:p.Arg359=
NM_001136179.3:c.1075C= NP_001129651.1:p.Arg359=
NM_001321037.1:c.1075C= NP_001307966.1:p.Arg359=
NM_001321037.2:c.1075C= NP_001307966.1:p.Arg359=
ENST00000242480.3:c.1225C= ENSP00000242480.3:p.Arg409=
ENST00000411732.2:c.1075C= ENSP00000387634.1:p.Arg359=
ENST00000411732.3:c.1075C= ENSP00000387634.1:p.Arg359=
ENST00000411732.4:c.1075C= ENSP00000387634.1:p.Arg359=
ENST00000439032.4:c.1225C= ENSP00000402040.1:p.Arg409=
ENST00000439032.6:c.1765C= ENSP00000509775.1:n.1765C=
ENST00000637191.2:c.1225C= ENSP00000490154.2:p.Arg409=
ENST00000639815.1:n.109-451C=
ENST00000690143.1:c.*1157C= ENSP00000510306.1:n.*1157C=
ENST00000691610.1:c.1264C= ENSP00000509830.1:p.Arg422=
XM_011539427.1:c.1264C= XP_011537729.1:p.Arg422=
XM_011539428.1:c.1075C= XP_011537730.1:p.Arg359=
XM_011539429.1:c.1075C= XP_011537731.1:p.Arg359=