Canonical Allele Identifier: CA2580615486

Gene: EGR2

Linked Data

• ClinVar Variation Id: 1927221
• ClinVar RCV Id: RCV002631062
• gnomAD v4: 10-62814118-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62814128_62814130del , CM000672.2:g.62814128_62814130del	GRCh38
NC_000010.10:g.64573888_64573890del , CM000672.1:g.64573888_64573890del	GRCh37
NC_000010.9:g.64243894_64243896del	NCBI36
NG_008936.2:g.110780_110782del , LRG_239:g.110780_110782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.367_369del	ENSP00000387634.1:p.Pro123del
ENST00000439032.6:c.1057_1059del	ENSP00000509775.1:n.1057_1059del
ENST00000637191.2:c.517_519del	ENSP00000490154.2:p.Pro173del
ENST00000690143.1:c.*449_*451del	ENSP00000510306.1:n.*449_*451del
ENST00000691610.1:c.556_558del	ENSP00000509830.1:p.Pro186del
ENST00000242480.4:c.517_519del MANE Select	ENSP00000242480.3:p.Pro173del
ENST00000411732.3:c.367_369del	ENSP00000387634.1:p.Pro123del
ENST00000639815.1:n.109-1159_109-1157del
ENST00000242480.3:c.517_519del	ENSP00000242480.3:p.Pro173del
ENST00000411732.2:c.367_369del	ENSP00000387634.1:p.Pro123del
ENST00000439032.4:c.517_519del	ENSP00000402040.1:p.Pro173del
NM_000399.3:c.517_519del , LRG_239t1:c.517_519del	NP_000390.2:p.Pro173del
NM_001136177.1:c.517_519del	NP_001129649.1:p.Pro173del
NM_001136178.1:c.517_519del	NP_001129650.1:p.Pro173del
NM_001136179.1:c.367_369del	NP_001129651.1:p.Pro123del
XM_011539427.1:c.556_558del	XP_011537729.1:p.Pro186del
XM_011539428.1:c.367_369del	XP_011537730.1:p.Pro123del
XM_011539429.1:c.367_369del	XP_011537731.1:p.Pro123del
NM_000399.4:c.517_519del	NP_000390.2:p.Pro173del
NM_001136177.2:c.517_519del	NP_001129649.1:p.Pro173del
NM_001136179.2:c.367_369del	NP_001129651.1:p.Pro123del
NM_001321037.1:c.367_369del	NP_001307966.1:p.Pro123del
NM_000399.5:c.517_519del MANE Select	NP_000390.2:p.Pro173del
NM_001136177.3:c.517_519del	NP_001129649.1:p.Pro173del
NM_001136179.3:c.367_369del	NP_001129651.1:p.Pro123del
NM_001321037.2:c.367_369del	NP_001307966.1:p.Pro123del
NM_001136178.2:c.517_519del	NP_001129650.1:p.Pro173del