Canonical Allele Identifier: CA5517275

Gene: EGR2

Linked Data

• ClinVar Variation Id: 1997882
• ClinVar RCV Id: RCV002810086
• dbSNP Id: rs768683610
• ExAC: 10:64573955 G / T
• gnomAD v2: 10-64573955-G-T
• gnomAD v4: 10-62814195-G-T
• MyVariant Identifiers: chr10:g.64573955G>T (hg19) ; chr10:g.62814195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62814195G>T , CM000672.2:g.62814195G>T	GRCh38
NC_000010.10:g.64573955G>T , CM000672.1:g.64573955G>T	GRCh37
NC_000010.9:g.64243961G>T	NCBI36
NG_008936.2:g.110706C>A , LRG_239:g.110706C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.293C>A	ENSP00000387634.1:p.Pro98His
ENST00000439032.6:c.983C>A	ENSP00000509775.1:n.983C>A
ENST00000637191.2:c.443C>A	ENSP00000490154.2:p.Pro148His
ENST00000690143.1:c.*375C>A	ENSP00000510306.1:n.*375C>A
ENST00000691610.1:c.482C>A	ENSP00000509830.1:p.Pro161His
ENST00000242480.4:c.443C>A MANE Select	ENSP00000242480.3:p.Pro148His
ENST00000411732.3:c.293C>A	ENSP00000387634.1:p.Pro98His
ENST00000639815.1:n.109-1233C>A
ENST00000242480.3:c.443C>A	ENSP00000242480.3:p.Pro148His
ENST00000411732.2:c.293C>A	ENSP00000387634.1:p.Pro98His
ENST00000439032.4:c.443C>A	ENSP00000402040.1:p.Pro148His
NM_000399.3:c.443C>A , LRG_239t1:c.443C>A	NP_000390.2:p.Pro148His
NM_001136177.1:c.443C>A	NP_001129649.1:p.Pro148His
NM_001136178.1:c.443C>A	NP_001129650.1:p.Pro148His
NM_001136179.1:c.293C>A	NP_001129651.1:p.Pro98His
XM_011539427.1:c.482C>A	XP_011537729.1:p.Pro161His
XM_011539428.1:c.293C>A	XP_011537730.1:p.Pro98His
XM_011539429.1:c.293C>A	XP_011537731.1:p.Pro98His
NM_000399.4:c.443C>A	NP_000390.2:p.Pro148His
NM_001136177.2:c.443C>A	NP_001129649.1:p.Pro148His
NM_001136179.2:c.293C>A	NP_001129651.1:p.Pro98His
NM_001321037.1:c.293C>A	NP_001307966.1:p.Pro98His
NM_000399.5:c.443C>A MANE Select	NP_000390.2:p.Pro148His
NM_001136177.3:c.443C>A	NP_001129649.1:p.Pro148His
NM_001136179.3:c.293C>A	NP_001129651.1:p.Pro98His
NM_001321037.2:c.293C>A	NP_001307966.1:p.Pro98His
NM_001136178.2:c.443C>A	NP_001129650.1:p.Pro148His