Canonical Allele Identifier: CA377027233
Gene: EGR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813377G>T , CM000672.2:g.62813377G>T GRCh38
NC_000010.10:g.64573137G>T , CM000672.1:g.64573137G>T GRCh37
NC_000010.9:g.64243143G>T NCBI36
NG_008936.2:g.111524C>A , LRG_239:g.111524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.1111C>A ENSP00000387634.1:p.Leu371Met
ENST00000439032.6:c.1801C>A ENSP00000509775.1:n.1801C>A
ENST00000637191.2:c.1261C>A ENSP00000490154.2:p.Leu421Met
ENST00000690143.1:c.*1193C>A ENSP00000510306.1:n.*1193C>A
ENST00000691610.1:c.1300C>A ENSP00000509830.1:p.Leu434Met
ENST00000242480.4:c.1261C>A MANE Select ENSP00000242480.3:p.Leu421Met
ENST00000411732.3:c.1111C>A ENSP00000387634.1:p.Leu371Met
ENST00000639815.1:n.109-415C>A
ENST00000242480.3:c.1261C>A ENSP00000242480.3:p.Leu421Met
ENST00000411732.2:c.1111C>A ENSP00000387634.1:p.Leu371Met
ENST00000439032.4:c.1261C>A ENSP00000402040.1:p.Leu421Met
NM_000399.3:c.1261C>A , LRG_239t1:c.1261C>A NP_000390.2:p.Leu421Met
NM_001136177.1:c.1261C>A NP_001129649.1:p.Leu421Met
NM_001136178.1:c.1261C>A NP_001129650.1:p.Leu421Met
NM_001136179.1:c.1111C>A NP_001129651.1:p.Leu371Met
XM_011539427.1:c.1300C>A XP_011537729.1:p.Leu434Met
XM_011539428.1:c.1111C>A XP_011537730.1:p.Leu371Met
XM_011539429.1:c.1111C>A XP_011537731.1:p.Leu371Met
NM_000399.4:c.1261C>A NP_000390.2:p.Leu421Met
NM_001136177.2:c.1261C>A NP_001129649.1:p.Leu421Met
NM_001136179.2:c.1111C>A NP_001129651.1:p.Leu371Met
NM_001321037.1:c.1111C>A NP_001307966.1:p.Leu371Met
NM_000399.5:c.1261C>A MANE Select NP_000390.2:p.Leu421Met
NM_001136177.3:c.1261C>A NP_001129649.1:p.Leu421Met
NM_001136179.3:c.1111C>A NP_001129651.1:p.Leu371Met
NM_001321037.2:c.1111C>A NP_001307966.1:p.Leu371Met
NM_001136178.2:c.1261C>A NP_001129650.1:p.Leu421Met