Canonical Allele Identifier: CA469997177
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2158279
ClinVar RCV Id: RCV003069687
dbSNP Id: rs1174378727

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813873G>A , CM000672.2:g.62813873G>A GRCh38
NC_000010.10:g.64573633G>A , CM000672.1:g.64573633G>A GRCh37
NC_000010.9:g.64243639G>A NCBI36
NG_008936.2:g.111028C>T , LRG_239:g.111028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.615C>T ENSP00000387634.1:p.Thr205=
ENST00000439032.6:c.1305C>T ENSP00000509775.1:n.1305C>T
ENST00000637191.2:c.765C>T ENSP00000490154.2:p.Thr255=
ENST00000690143.1:c.*697C>T ENSP00000510306.1:n.*697C>T
ENST00000691610.1:c.804C>T ENSP00000509830.1:p.Thr268=
ENST00000242480.4:c.765C>T MANE Select ENSP00000242480.3:p.Thr255=
ENST00000411732.3:c.615C>T ENSP00000387634.1:p.Thr205=
ENST00000639815.1:n.109-911C>T
ENST00000242480.3:c.765C>T ENSP00000242480.3:p.Thr255=
ENST00000411732.2:c.615C>T ENSP00000387634.1:p.Thr205=
ENST00000439032.4:c.765C>T ENSP00000402040.1:p.Thr255=
NM_000399.3:c.765C>T , LRG_239t1:c.765C>T NP_000390.2:p.Thr255=
NM_001136177.1:c.765C>T NP_001129649.1:p.Thr255=
NM_001136178.1:c.765C>T NP_001129650.1:p.Thr255=
NM_001136179.1:c.615C>T NP_001129651.1:p.Thr205=
XM_011539427.1:c.804C>T XP_011537729.1:p.Thr268=
XM_011539428.1:c.615C>T XP_011537730.1:p.Thr205=
XM_011539429.1:c.615C>T XP_011537731.1:p.Thr205=
NM_000399.4:c.765C>T NP_000390.2:p.Thr255=
NM_001136177.2:c.765C>T NP_001129649.1:p.Thr255=
NM_001136179.2:c.615C>T NP_001129651.1:p.Thr205=
NM_001321037.1:c.615C>T NP_001307966.1:p.Thr205=
NM_000399.5:c.765C>T MANE Select NP_000390.2:p.Thr255=
NM_001136177.3:c.765C>T NP_001129649.1:p.Thr255=
NM_001136179.3:c.615C>T NP_001129651.1:p.Thr205=
NM_001321037.2:c.615C>T NP_001307966.1:p.Thr205=
NM_001136178.2:c.765C>T NP_001129650.1:p.Thr255=