Canonical Allele Identifier: CA5517226

Gene: EGR2

Linked Data

• ClinVar Variation Id: 2251116
• ClinVar RCV Id: RCV002763267
• dbSNP Id: rs756821902
• ExAC: 10:64573598 G / T
• gnomAD v2: 10-64573598-G-T
• gnomAD v3: 10-62813838-G-T
• gnomAD v4: 10-62813838-G-T
• MyVariant Identifiers: chr10:g.64573598G>T (hg19) ; chr10:g.62813838G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813838G>T , CM000672.2:g.62813838G>T	GRCh38
NC_000010.10:g.64573598G>T , CM000672.1:g.64573598G>T	GRCh37
NC_000010.9:g.64243604G>T	NCBI36
NG_008936.2:g.111063C>A , LRG_239:g.111063C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411732.4:c.650C>A	ENSP00000387634.1:p.Thr217Lys
ENST00000439032.6:c.1340C>A	ENSP00000509775.1:n.1340C>A
ENST00000637191.2:c.800C>A	ENSP00000490154.2:p.Thr267Lys
ENST00000690143.1:c.*732C>A	ENSP00000510306.1:n.*732C>A
ENST00000691610.1:c.839C>A	ENSP00000509830.1:p.Thr280Lys
ENST00000242480.4:c.800C>A MANE Select	ENSP00000242480.3:p.Thr267Lys
ENST00000411732.3:c.650C>A	ENSP00000387634.1:p.Thr217Lys
ENST00000639815.1:n.109-876C>A
ENST00000242480.3:c.800C>A	ENSP00000242480.3:p.Thr267Lys
ENST00000411732.2:c.650C>A	ENSP00000387634.1:p.Thr217Lys
ENST00000439032.4:c.800C>A	ENSP00000402040.1:p.Thr267Lys
NM_000399.3:c.800C>A , LRG_239t1:c.800C>A	NP_000390.2:p.Thr267Lys
NM_001136177.1:c.800C>A	NP_001129649.1:p.Thr267Lys
NM_001136178.1:c.800C>A	NP_001129650.1:p.Thr267Lys
NM_001136179.1:c.650C>A	NP_001129651.1:p.Thr217Lys
XM_011539427.1:c.839C>A	XP_011537729.1:p.Thr280Lys
XM_011539428.1:c.650C>A	XP_011537730.1:p.Thr217Lys
XM_011539429.1:c.650C>A	XP_011537731.1:p.Thr217Lys
NM_000399.4:c.800C>A	NP_000390.2:p.Thr267Lys
NM_001136177.2:c.800C>A	NP_001129649.1:p.Thr267Lys
NM_001136179.2:c.650C>A	NP_001129651.1:p.Thr217Lys
NM_001321037.1:c.650C>A	NP_001307966.1:p.Thr217Lys
NM_000399.5:c.800C>A MANE Select	NP_000390.2:p.Thr267Lys
NM_001136177.3:c.800C>A	NP_001129649.1:p.Thr267Lys
NM_001136179.3:c.650C>A	NP_001129651.1:p.Thr217Lys
NM_001321037.2:c.650C>A	NP_001307966.1:p.Thr217Lys
NM_001136178.2:c.800C>A	NP_001129650.1:p.Thr267Lys