Canonical Allele Identifier: CA5517275
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1997882
ClinVar RCV Id: RCV002810086
dbSNP Id: rs768683610

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62814195G>T , CM000672.2:g.62814195G>T GRCh38
NC_000010.10:g.64573955G>T , CM000672.1:g.64573955G>T GRCh37
NC_000010.9:g.64243961G>T NCBI36
NG_008936.2:g.110706C>A , LRG_239:g.110706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.293C>A ENSP00000387634.1:p.Pro98His
ENST00000439032.6:c.983C>A ENSP00000509775.1:n.983C>A
ENST00000637191.2:c.443C>A ENSP00000490154.2:p.Pro148His
ENST00000690143.1:c.*375C>A ENSP00000510306.1:n.*375C>A
ENST00000691610.1:c.482C>A ENSP00000509830.1:p.Pro161His
ENST00000242480.4:c.443C>A MANE Select ENSP00000242480.3:p.Pro148His
ENST00000411732.3:c.293C>A ENSP00000387634.1:p.Pro98His
ENST00000639815.1:n.109-1233C>A
ENST00000242480.3:c.443C>A ENSP00000242480.3:p.Pro148His
ENST00000411732.2:c.293C>A ENSP00000387634.1:p.Pro98His
ENST00000439032.4:c.443C>A ENSP00000402040.1:p.Pro148His
NM_000399.3:c.443C>A , LRG_239t1:c.443C>A NP_000390.2:p.Pro148His
NM_001136177.1:c.443C>A NP_001129649.1:p.Pro148His
NM_001136178.1:c.443C>A NP_001129650.1:p.Pro148His
NM_001136179.1:c.293C>A NP_001129651.1:p.Pro98His
XM_011539427.1:c.482C>A XP_011537729.1:p.Pro161His
XM_011539428.1:c.293C>A XP_011537730.1:p.Pro98His
XM_011539429.1:c.293C>A XP_011537731.1:p.Pro98His
NM_000399.4:c.443C>A NP_000390.2:p.Pro148His
NM_001136177.2:c.443C>A NP_001129649.1:p.Pro148His
NM_001136179.2:c.293C>A NP_001129651.1:p.Pro98His
NM_001321037.1:c.293C>A NP_001307966.1:p.Pro98His
NM_000399.5:c.443C>A MANE Select NP_000390.2:p.Pro148His
NM_001136177.3:c.443C>A NP_001129649.1:p.Pro148His
NM_001136179.3:c.293C>A NP_001129651.1:p.Pro98His
NM_001321037.2:c.293C>A NP_001307966.1:p.Pro98His
NM_001136178.2:c.443C>A NP_001129650.1:p.Pro148His