Canonical Allele Identifier: CA5517222

Gene: EGR2

Linked Data

• ClinVar Variation Id: 935303
• ClinVar RCV Id: RCV001203865
• dbSNP Id: rs774959041
• ExAC: 10:64573583 G / A
• gnomAD v2: 10-64573583-G-A
• gnomAD v4: 10-62813823-G-A
• MyVariant Identifiers: chr10:g.64573583G>A (hg19) ; chr10:g.62813823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813823G>A , CM000672.2:g.62813823G>A	GRCh38
NC_000010.10:g.64573583G>A , CM000672.1:g.64573583G>A	GRCh37
NC_000010.9:g.64243589G>A	NCBI36
NG_008936.2:g.111078C>T , LRG_239:g.111078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.665C>T	ENSP00000387634.1:p.Thr222Ile
ENST00000439032.6:c.1355C>T	ENSP00000509775.1:n.1355C>T
ENST00000637191.2:c.815C>T	ENSP00000490154.2:p.Thr272Ile
ENST00000690143.1:c.*747C>T	ENSP00000510306.1:n.*747C>T
ENST00000691610.1:c.854C>T	ENSP00000509830.1:p.Thr285Ile
ENST00000242480.4:c.815C>T MANE Select	ENSP00000242480.3:p.Thr272Ile
ENST00000411732.3:c.665C>T	ENSP00000387634.1:p.Thr222Ile
ENST00000639815.1:n.109-861C>T
ENST00000242480.3:c.815C>T	ENSP00000242480.3:p.Thr272Ile
ENST00000411732.2:c.665C>T	ENSP00000387634.1:p.Thr222Ile
ENST00000439032.4:c.815C>T	ENSP00000402040.1:p.Thr272Ile
NM_000399.3:c.815C>T , LRG_239t1:c.815C>T	NP_000390.2:p.Thr272Ile
NM_001136177.1:c.815C>T	NP_001129649.1:p.Thr272Ile
NM_001136178.1:c.815C>T	NP_001129650.1:p.Thr272Ile
NM_001136179.1:c.665C>T	NP_001129651.1:p.Thr222Ile
XM_011539427.1:c.854C>T	XP_011537729.1:p.Thr285Ile
XM_011539428.1:c.665C>T	XP_011537730.1:p.Thr222Ile
XM_011539429.1:c.665C>T	XP_011537731.1:p.Thr222Ile
NM_000399.4:c.815C>T	NP_000390.2:p.Thr272Ile
NM_001136177.2:c.815C>T	NP_001129649.1:p.Thr272Ile
NM_001136179.2:c.665C>T	NP_001129651.1:p.Thr222Ile
NM_001321037.1:c.665C>T	NP_001307966.1:p.Thr222Ile
NM_000399.5:c.815C>T MANE Select	NP_000390.2:p.Thr272Ile
NM_001136177.3:c.815C>T	NP_001129649.1:p.Thr272Ile
NM_001136179.3:c.665C>T	NP_001129651.1:p.Thr222Ile
NM_001321037.2:c.665C>T	NP_001307966.1:p.Thr222Ile
NM_001136178.2:c.815C>T	NP_001129650.1:p.Thr272Ile