Canonical Allele Identifier: CA5517186
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1986706
ClinVar RCV Id: RCV002770713
dbSNP Id: rs779229640

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813655T>C , CM000672.2:g.62813655T>C GRCh38
NC_000010.10:g.64573415T>C , CM000672.1:g.64573415T>C GRCh37
NC_000010.9:g.64243421T>C NCBI36
NG_008936.2:g.111246A>G , LRG_239:g.111246A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.833A>G ENSP00000387634.1:p.Asn278Ser
ENST00000439032.6:c.1523A>G ENSP00000509775.1:n.1523A>G
ENST00000637191.2:c.983A>G ENSP00000490154.2:p.Asn328Ser
ENST00000690143.1:c.*915A>G ENSP00000510306.1:n.*915A>G
ENST00000691610.1:c.1022A>G ENSP00000509830.1:p.Asn341Ser
ENST00000242480.4:c.983A>G MANE Select ENSP00000242480.3:p.Asn328Ser
ENST00000411732.3:c.833A>G ENSP00000387634.1:p.Asn278Ser
ENST00000639815.1:n.109-693A>G
ENST00000242480.3:c.983A>G ENSP00000242480.3:p.Asn328Ser
ENST00000411732.2:c.833A>G ENSP00000387634.1:p.Asn278Ser
ENST00000439032.4:c.983A>G ENSP00000402040.1:p.Asn328Ser
NM_000399.3:c.983A>G , LRG_239t1:c.983A>G NP_000390.2:p.Asn328Ser
NM_001136177.1:c.983A>G NP_001129649.1:p.Asn328Ser
NM_001136178.1:c.983A>G NP_001129650.1:p.Asn328Ser
NM_001136179.1:c.833A>G NP_001129651.1:p.Asn278Ser
XM_011539427.1:c.1022A>G XP_011537729.1:p.Asn341Ser
XM_011539428.1:c.833A>G XP_011537730.1:p.Asn278Ser
XM_011539429.1:c.833A>G XP_011537731.1:p.Asn278Ser
NM_000399.4:c.983A>G NP_000390.2:p.Asn328Ser
NM_001136177.2:c.983A>G NP_001129649.1:p.Asn328Ser
NM_001136179.2:c.833A>G NP_001129651.1:p.Asn278Ser
NM_001321037.1:c.833A>G NP_001307966.1:p.Asn278Ser
NM_000399.5:c.983A>G MANE Select NP_000390.2:p.Asn328Ser
NM_001136177.3:c.983A>G NP_001129649.1:p.Asn328Ser
NM_001136179.3:c.833A>G NP_001129651.1:p.Asn278Ser
NM_001321037.2:c.833A>G NP_001307966.1:p.Asn278Ser
NM_001136178.2:c.983A>G NP_001129650.1:p.Asn328Ser