Canonical Allele Identifier: CA5517166

Gene: EGR2

Linked Data

• ClinVar Variation Id: 415906
• ClinVar RCV Id: RCV001173239 ; RCV002383888 ; RCV002525676
• dbSNP Id: rs554456422
• ExAC: 10:64573156 C / T
• gnomAD v2: 10-64573156-C-T
• gnomAD v3: 10-62813396-C-T
• gnomAD v4: 10-62813396-C-T
• MyVariant Identifiers: chr10:g.64573156C>T (hg19) ; chr10:g.62813396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813396C>T , CM000672.2:g.62813396C>T	GRCh38
NC_000010.10:g.64573156C>T , CM000672.1:g.64573156C>T	GRCh37
NC_000010.9:g.64243162C>T	NCBI36
NG_008936.2:g.111505G>A , LRG_239:g.111505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.1092G>A	ENSP00000387634.1:p.Lys364=
ENST00000439032.6:c.1782G>A	ENSP00000509775.1:n.1782G>A
ENST00000637191.2:c.1242G>A	ENSP00000490154.2:p.Lys414=
ENST00000690143.1:c.*1174G>A	ENSP00000510306.1:n.*1174G>A
ENST00000691610.1:c.1281G>A	ENSP00000509830.1:p.Lys427=
ENST00000242480.4:c.1242G>A MANE Select	ENSP00000242480.3:p.Lys414=
ENST00000411732.3:c.1092G>A	ENSP00000387634.1:p.Lys364=
ENST00000639815.1:n.109-434G>A
ENST00000242480.3:c.1242G>A	ENSP00000242480.3:p.Lys414=
ENST00000411732.2:c.1092G>A	ENSP00000387634.1:p.Lys364=
ENST00000439032.4:c.1242G>A	ENSP00000402040.1:p.Lys414=
NM_000399.3:c.1242G>A , LRG_239t1:c.1242G>A	NP_000390.2:p.Lys414=
NM_001136177.1:c.1242G>A	NP_001129649.1:p.Lys414=
NM_001136178.1:c.1242G>A	NP_001129650.1:p.Lys414=
NM_001136179.1:c.1092G>A	NP_001129651.1:p.Lys364=
XM_011539427.1:c.1281G>A	XP_011537729.1:p.Lys427=
XM_011539428.1:c.1092G>A	XP_011537730.1:p.Lys364=
XM_011539429.1:c.1092G>A	XP_011537731.1:p.Lys364=
NM_000399.4:c.1242G>A	NP_000390.2:p.Lys414=
NM_001136177.2:c.1242G>A	NP_001129649.1:p.Lys414=
NM_001136179.2:c.1092G>A	NP_001129651.1:p.Lys364=
NM_001321037.1:c.1092G>A	NP_001307966.1:p.Lys364=
NM_000399.5:c.1242G>A MANE Select	NP_000390.2:p.Lys414=
NM_001136177.3:c.1242G>A	NP_001129649.1:p.Lys414=
NM_001136179.3:c.1092G>A	NP_001129651.1:p.Lys364=
NM_001321037.2:c.1092G>A	NP_001307966.1:p.Lys364=
NM_001136178.2:c.1242G>A	NP_001129650.1:p.Lys414=