Canonical Allele Identifier: CA5517273
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 462785
dbSNP Id: rs202183386

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62814181T>G , CM000672.2:g.62814181T>G GRCh38
NC_000010.10:g.64573941T>G , CM000672.1:g.64573941T>G GRCh37
NC_000010.9:g.64243947T>G NCBI36
NG_008936.2:g.110720A>C , LRG_239:g.110720A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.307A>C ENSP00000387634.1:p.Thr103Pro
ENST00000439032.6:c.997A>C ENSP00000509775.1:n.997A>C
ENST00000637191.2:c.457A>C ENSP00000490154.2:p.Thr153Pro
ENST00000690143.1:c.*389A>C ENSP00000510306.1:n.*389A>C
ENST00000691610.1:c.496A>C ENSP00000509830.1:p.Thr166Pro
ENST00000242480.4:c.457A>C MANE Select ENSP00000242480.3:p.Thr153Pro
ENST00000411732.3:c.307A>C ENSP00000387634.1:p.Thr103Pro
ENST00000639815.1:n.109-1219A>C
ENST00000242480.3:c.457A>C ENSP00000242480.3:p.Thr153Pro
ENST00000411732.2:c.307A>C ENSP00000387634.1:p.Thr103Pro
ENST00000439032.4:c.457A>C ENSP00000402040.1:p.Thr153Pro
NM_000399.3:c.457A>C , LRG_239t1:c.457A>C NP_000390.2:p.Thr153Pro
NM_001136177.1:c.457A>C NP_001129649.1:p.Thr153Pro
NM_001136178.1:c.457A>C NP_001129650.1:p.Thr153Pro
NM_001136179.1:c.307A>C NP_001129651.1:p.Thr103Pro
XM_011539427.1:c.496A>C XP_011537729.1:p.Thr166Pro
XM_011539428.1:c.307A>C XP_011537730.1:p.Thr103Pro
XM_011539429.1:c.307A>C XP_011537731.1:p.Thr103Pro
NM_000399.4:c.457A>C NP_000390.2:p.Thr153Pro
NM_001136177.2:c.457A>C NP_001129649.1:p.Thr153Pro
NM_001136179.2:c.307A>C NP_001129651.1:p.Thr103Pro
NM_001321037.1:c.307A>C NP_001307966.1:p.Thr103Pro
NM_000399.5:c.457A>C MANE Select NP_000390.2:p.Thr153Pro
NM_001136177.3:c.457A>C NP_001129649.1:p.Thr153Pro
NM_001136179.3:c.307A>C NP_001129651.1:p.Thr103Pro
NM_001321037.2:c.307A>C NP_001307966.1:p.Thr103Pro
NM_001136178.2:c.457A>C NP_001129650.1:p.Thr153Pro