Canonical Allele Identifier: CA5517191

Gene: EGR2

Linked Data

• ClinVar Variation Id: 694853
• ClinVar RCV Id: RCV000856960
• dbSNP Id: rs768808272
• ExAC: 10:64573457 T / G
• gnomAD v2: 10-64573457-T-G
• gnomAD v4: 10-62813697-T-G
• MyVariant Identifiers: chr10:g.64573457T>G (hg19) ; chr10:g.62813697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813697T>G , CM000672.2:g.62813697T>G	GRCh38
NC_000010.10:g.64573457T>G , CM000672.1:g.64573457T>G	GRCh37
NC_000010.9:g.64243463T>G	NCBI36
NG_008936.2:g.111204A>C , LRG_239:g.111204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.791A>C	ENSP00000387634.1:p.His264Pro
ENST00000439032.6:c.1481A>C	ENSP00000509775.1:n.1481A>C
ENST00000637191.2:c.941A>C	ENSP00000490154.2:p.His314Pro
ENST00000690143.1:c.*873A>C	ENSP00000510306.1:n.*873A>C
ENST00000691610.1:c.980A>C	ENSP00000509830.1:p.His327Pro
ENST00000242480.4:c.941A>C MANE Select	ENSP00000242480.3:p.His314Pro
ENST00000411732.3:c.791A>C	ENSP00000387634.1:p.His264Pro
ENST00000639815.1:n.109-735A>C
ENST00000242480.3:c.941A>C	ENSP00000242480.3:p.His314Pro
ENST00000411732.2:c.791A>C	ENSP00000387634.1:p.His264Pro
ENST00000439032.4:c.941A>C	ENSP00000402040.1:p.His314Pro
NM_000399.3:c.941A>C , LRG_239t1:c.941A>C	NP_000390.2:p.His314Pro
NM_001136177.1:c.941A>C	NP_001129649.1:p.His314Pro
NM_001136178.1:c.941A>C	NP_001129650.1:p.His314Pro
NM_001136179.1:c.791A>C	NP_001129651.1:p.His264Pro
XM_011539427.1:c.980A>C	XP_011537729.1:p.His327Pro
XM_011539428.1:c.791A>C	XP_011537730.1:p.His264Pro
XM_011539429.1:c.791A>C	XP_011537731.1:p.His264Pro
NM_000399.4:c.941A>C	NP_000390.2:p.His314Pro
NM_001136177.2:c.941A>C	NP_001129649.1:p.His314Pro
NM_001136179.2:c.791A>C	NP_001129651.1:p.His264Pro
NM_001321037.1:c.791A>C	NP_001307966.1:p.His264Pro
NM_000399.5:c.941A>C MANE Select	NP_000390.2:p.His314Pro
NM_001136177.3:c.941A>C	NP_001129649.1:p.His314Pro
NM_001136179.3:c.791A>C	NP_001129651.1:p.His264Pro
NM_001321037.2:c.791A>C	NP_001307966.1:p.His264Pro
NM_001136178.2:c.941A>C	NP_001129650.1:p.His314Pro