Canonical Allele Identifier: CA377029439
Gene: EGR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813982A>G , CM000672.2:g.62813982A>G GRCh38
NC_000010.10:g.64573742A>G , CM000672.1:g.64573742A>G GRCh37
NC_000010.9:g.64243748A>G NCBI36
NG_008936.2:g.110919T>C , LRG_239:g.110919T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.506T>C ENSP00000387634.1:p.Leu169Pro
ENST00000439032.6:c.1196T>C ENSP00000509775.1:n.1196T>C
ENST00000637191.2:c.656T>C ENSP00000490154.2:p.Leu219Pro
ENST00000690143.1:c.*588T>C ENSP00000510306.1:n.*588T>C
ENST00000691610.1:c.695T>C ENSP00000509830.1:p.Leu232Pro
ENST00000242480.4:c.656T>C MANE Select ENSP00000242480.3:p.Leu219Pro
ENST00000411732.3:c.506T>C ENSP00000387634.1:p.Leu169Pro
ENST00000639815.1:n.109-1020T>C
ENST00000242480.3:c.656T>C ENSP00000242480.3:p.Leu219Pro
ENST00000411732.2:c.506T>C ENSP00000387634.1:p.Leu169Pro
ENST00000439032.4:c.656T>C ENSP00000402040.1:p.Leu219Pro
NM_000399.3:c.656T>C , LRG_239t1:c.656T>C NP_000390.2:p.Leu219Pro
NM_001136177.1:c.656T>C NP_001129649.1:p.Leu219Pro
NM_001136178.1:c.656T>C NP_001129650.1:p.Leu219Pro
NM_001136179.1:c.506T>C NP_001129651.1:p.Leu169Pro
XM_011539427.1:c.695T>C XP_011537729.1:p.Leu232Pro
XM_011539428.1:c.506T>C XP_011537730.1:p.Leu169Pro
XM_011539429.1:c.506T>C XP_011537731.1:p.Leu169Pro
NM_000399.4:c.656T>C NP_000390.2:p.Leu219Pro
NM_001136177.2:c.656T>C NP_001129649.1:p.Leu219Pro
NM_001136179.2:c.506T>C NP_001129651.1:p.Leu169Pro
NM_001321037.1:c.506T>C NP_001307966.1:p.Leu169Pro
NM_000399.5:c.656T>C MANE Select NP_000390.2:p.Leu219Pro
NM_001136177.3:c.656T>C NP_001129649.1:p.Leu219Pro
NM_001136179.3:c.506T>C NP_001129651.1:p.Leu169Pro
NM_001321037.2:c.506T>C NP_001307966.1:p.Leu169Pro
NM_001136178.2:c.656T>C NP_001129650.1:p.Leu219Pro