Canonical Allele Identifier: CA5517179

Gene: EGR2

Linked Data

• ClinVar Variation Id: 1121958
• ClinVar RCV Id: RCV001452413
• dbSNP Id: rs754645141
• ExAC: 10:64573345 G / A
• gnomAD v2: 10-64573345-G-A
• gnomAD v4: 10-62813585-G-A
• MyVariant Identifiers: chr10:g.64573345G>A (hg19) ; chr10:g.62813585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813585G>A , CM000672.2:g.62813585G>A	GRCh38
NC_000010.10:g.64573345G>A , CM000672.1:g.64573345G>A	GRCh37
NC_000010.9:g.64243351G>A	NCBI36
NG_008936.2:g.111316C>T , LRG_239:g.111316C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.903C>T	ENSP00000387634.1:p.Phe301=
ENST00000439032.6:c.1593C>T	ENSP00000509775.1:n.1593C>T
ENST00000637191.2:c.1053C>T	ENSP00000490154.2:p.Phe351=
ENST00000690143.1:c.*985C>T	ENSP00000510306.1:n.*985C>T
ENST00000691610.1:c.1092C>T	ENSP00000509830.1:p.Phe364=
ENST00000242480.4:c.1053C>T MANE Select	ENSP00000242480.3:p.Phe351=
ENST00000411732.3:c.903C>T	ENSP00000387634.1:p.Phe301=
ENST00000639815.1:n.109-623C>T
ENST00000242480.3:c.1053C>T	ENSP00000242480.3:p.Phe351=
ENST00000411732.2:c.903C>T	ENSP00000387634.1:p.Phe301=
ENST00000439032.4:c.1053C>T	ENSP00000402040.1:p.Phe351=
NM_000399.3:c.1053C>T , LRG_239t1:c.1053C>T	NP_000390.2:p.Phe351=
NM_001136177.1:c.1053C>T	NP_001129649.1:p.Phe351=
NM_001136178.1:c.1053C>T	NP_001129650.1:p.Phe351=
NM_001136179.1:c.903C>T	NP_001129651.1:p.Phe301=
XM_011539427.1:c.1092C>T	XP_011537729.1:p.Phe364=
XM_011539428.1:c.903C>T	XP_011537730.1:p.Phe301=
XM_011539429.1:c.903C>T	XP_011537731.1:p.Phe301=
NM_000399.4:c.1053C>T	NP_000390.2:p.Phe351=
NM_001136177.2:c.1053C>T	NP_001129649.1:p.Phe351=
NM_001136179.2:c.903C>T	NP_001129651.1:p.Phe301=
NM_001321037.1:c.903C>T	NP_001307966.1:p.Phe301=
NM_000399.5:c.1053C>T MANE Select	NP_000390.2:p.Phe351=
NM_001136177.3:c.1053C>T	NP_001129649.1:p.Phe351=
NM_001136179.3:c.903C>T	NP_001129651.1:p.Phe301=
NM_001321037.2:c.903C>T	NP_001307966.1:p.Phe301=
NM_001136178.2:c.1053C>T	NP_001129650.1:p.Phe351=