Canonical Allele Identifier: CA10636009

Gene: EGR2

Linked Data

• ClinVar Variation Id: 300272
• ClinVar RCV Id: RCV000398274 ; RCV001549679
• dbSNP Id: rs117395928
• gnomAD v2: 10-64572679-C-T
• gnomAD v3: 10-62812919-C-T
• gnomAD v4: 10-62812919-C-T
• MyVariant Identifiers: chr10:g.64572679C>T (hg19) ; chr10:g.62812919C>T (hg38)

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