Canonical Allele Identifier: CA377027229
Gene: EGR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813376A>C , CM000672.2:g.62813376A>C GRCh38
NC_000010.10:g.64573136A>C , CM000672.1:g.64573136A>C GRCh37
NC_000010.9:g.64243142A>C NCBI36
NG_008936.2:g.111525T>G , LRG_239:g.111525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.1112T>G ENSP00000387634.1:p.Leu371Arg
ENST00000439032.6:c.1802T>G ENSP00000509775.1:n.1802T>G
ENST00000637191.2:c.1262T>G ENSP00000490154.2:p.Leu421Arg
ENST00000690143.1:c.*1194T>G ENSP00000510306.1:n.*1194T>G
ENST00000691610.1:c.1301T>G ENSP00000509830.1:p.Leu434Arg
ENST00000242480.4:c.1262T>G MANE Select ENSP00000242480.3:p.Leu421Arg
ENST00000411732.3:c.1112T>G ENSP00000387634.1:p.Leu371Arg
ENST00000639815.1:n.109-414T>G
ENST00000242480.3:c.1262T>G ENSP00000242480.3:p.Leu421Arg
ENST00000411732.2:c.1112T>G ENSP00000387634.1:p.Leu371Arg
ENST00000439032.4:c.1262T>G ENSP00000402040.1:p.Leu421Arg
NM_000399.3:c.1262T>G , LRG_239t1:c.1262T>G NP_000390.2:p.Leu421Arg
NM_001136177.1:c.1262T>G NP_001129649.1:p.Leu421Arg
NM_001136178.1:c.1262T>G NP_001129650.1:p.Leu421Arg
NM_001136179.1:c.1112T>G NP_001129651.1:p.Leu371Arg
XM_011539427.1:c.1301T>G XP_011537729.1:p.Leu434Arg
XM_011539428.1:c.1112T>G XP_011537730.1:p.Leu371Arg
XM_011539429.1:c.1112T>G XP_011537731.1:p.Leu371Arg
NM_000399.4:c.1262T>G NP_000390.2:p.Leu421Arg
NM_001136177.2:c.1262T>G NP_001129649.1:p.Leu421Arg
NM_001136179.2:c.1112T>G NP_001129651.1:p.Leu371Arg
NM_001321037.1:c.1112T>G NP_001307966.1:p.Leu371Arg
NM_000399.5:c.1262T>G MANE Select NP_000390.2:p.Leu421Arg
NM_001136177.3:c.1262T>G NP_001129649.1:p.Leu421Arg
NM_001136179.3:c.1112T>G NP_001129651.1:p.Leu371Arg
NM_001321037.2:c.1112T>G NP_001307966.1:p.Leu371Arg
NM_001136178.2:c.1262T>G NP_001129650.1:p.Leu421Arg