Canonical Allele Identifier: CA377028313
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 651155
ClinVar RCV Id: RCV000806454
dbSNP Id: rs1589080747

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813691G>A , CM000672.2:g.62813691G>A GRCh38
NC_000010.10:g.64573451G>A , CM000672.1:g.64573451G>A GRCh37
NC_000010.9:g.64243457G>A NCBI36
NG_008936.2:g.111210C>T , LRG_239:g.111210C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.797C>T ENSP00000387634.1:p.Pro266Leu
ENST00000439032.6:c.1487C>T ENSP00000509775.1:n.1487C>T
ENST00000637191.2:c.947C>T ENSP00000490154.2:p.Pro316Leu
ENST00000690143.1:c.*879C>T ENSP00000510306.1:n.*879C>T
ENST00000691610.1:c.986C>T ENSP00000509830.1:p.Pro329Leu
ENST00000242480.4:c.947C>T MANE Select ENSP00000242480.3:p.Pro316Leu
ENST00000411732.3:c.797C>T ENSP00000387634.1:p.Pro266Leu
ENST00000639815.1:n.109-729C>T
ENST00000242480.3:c.947C>T ENSP00000242480.3:p.Pro316Leu
ENST00000411732.2:c.797C>T ENSP00000387634.1:p.Pro266Leu
ENST00000439032.4:c.947C>T ENSP00000402040.1:p.Pro316Leu
NM_000399.3:c.947C>T , LRG_239t1:c.947C>T NP_000390.2:p.Pro316Leu
NM_001136177.1:c.947C>T NP_001129649.1:p.Pro316Leu
NM_001136178.1:c.947C>T NP_001129650.1:p.Pro316Leu
NM_001136179.1:c.797C>T NP_001129651.1:p.Pro266Leu
XM_011539427.1:c.986C>T XP_011537729.1:p.Pro329Leu
XM_011539428.1:c.797C>T XP_011537730.1:p.Pro266Leu
XM_011539429.1:c.797C>T XP_011537731.1:p.Pro266Leu
NM_000399.4:c.947C>T NP_000390.2:p.Pro316Leu
NM_001136177.2:c.947C>T NP_001129649.1:p.Pro316Leu
NM_001136179.2:c.797C>T NP_001129651.1:p.Pro266Leu
NM_001321037.1:c.797C>T NP_001307966.1:p.Pro266Leu
NM_000399.5:c.947C>T MANE Select NP_000390.2:p.Pro316Leu
NM_001136177.3:c.947C>T NP_001129649.1:p.Pro316Leu
NM_001136179.3:c.797C>T NP_001129651.1:p.Pro266Leu
NM_001321037.2:c.797C>T NP_001307966.1:p.Pro266Leu
NM_001136178.2:c.947C>T NP_001129650.1:p.Pro316Leu