Canonical Allele Identifier: CA10636009
Gene: EGR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 300272
dbSNP Id: rs117395928

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62812919C>T , CM000672.2:g.62812919C>T GRCh38
NC_000010.10:g.64572679C>T , CM000672.1:g.64572679C>T GRCh37
NC_000010.9:g.64242685C>T NCBI36
NG_008936.2:g.111982G>A , LRG_239:g.111982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.*288G>A ENSP00000387634.1:n.*288G>A
ENST00000439032.6:c.2259G>A ENSP00000509775.1:n.2259G>A
ENST00000637191.2:c.*288G>A ENSP00000490154.2:n.*288G>A
ENST00000242480.4:c.*288G>A MANE Select ENSP00000242480.3:n.*288G>A
ENST00000411732.3:c.*288G>A ENSP00000387634.1:n.*288G>A
ENST00000639815.1:n.152G>A
ENST00000242480.3:c.*288G>A ENSP00000242480.3:n.*288G>A
ENST00000411732.2:c.*288G>A ENSP00000387634.1:n.*288G>A
ENST00000439032.4:c.*288G>A ENSP00000402040.1:n.*288G>A
NM_000399.3:c.*288G>A , LRG_239t1:c.*288G>A NP_000390.2:n.*288G>A
NM_001136177.1:c.*288G>A NP_001129649.1:n.*288G>A
NM_001136178.1:c.*288G>A NP_001129650.1:n.*288G>A
NM_001136179.1:c.*288G>A NP_001129651.1:n.*288G>A
XM_011539427.1:c.*288G>A XP_011537729.1:n.*288G>A
XM_011539428.1:c.*288G>A XP_011537730.1:n.*288G>A
XM_011539429.1:c.*288G>A XP_011537731.1:n.*288G>A
NM_000399.4:c.*288G>A NP_000390.2:n.*288G>A
NM_001136177.2:c.*288G>A NP_001129649.1:n.*288G>A
NM_001136179.2:c.*288G>A NP_001129651.1:n.*288G>A
NM_001321037.1:c.*288G>A NP_001307966.1:n.*288G>A
NM_000399.5:c.*288G>A MANE Select NP_000390.2:n.*288G>A
NM_001136177.3:c.*288G>A NP_001129649.1:n.*288G>A
NM_001136179.3:c.*288G>A NP_001129651.1:n.*288G>A
NM_001321037.2:c.*288G>A NP_001307966.1:n.*288G>A
NM_001136178.2:c.*288G>A NP_001129650.1:n.*288G>A