Canonical Allele Identifier: CA377028806

Gene: EGR2

Linked Data

• dbSNP Id: rs1201245940
• gnomAD v3: 10-62813845-G-A
• gnomAD v4: 10-62813845-G-A
• COSMIC: COSM5919857
• MyVariant Identifiers: chr10:g.64573605G>A (hg19) ; chr10:g.62813845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813845G>A , CM000672.2:g.62813845G>A	GRCh38
NC_000010.10:g.64573605G>A , CM000672.1:g.64573605G>A	GRCh37
NC_000010.9:g.64243611G>A	NCBI36
NG_008936.2:g.111056C>T , LRG_239:g.111056C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411732.4:c.643C>T	ENSP00000387634.1:p.Leu215Phe
ENST00000439032.6:c.1333C>T	ENSP00000509775.1:n.1333C>T
ENST00000637191.2:c.793C>T	ENSP00000490154.2:p.Leu265Phe
ENST00000690143.1:c.*725C>T	ENSP00000510306.1:n.*725C>T
ENST00000691610.1:c.832C>T	ENSP00000509830.1:p.Leu278Phe
ENST00000242480.4:c.793C>T MANE Select	ENSP00000242480.3:p.Leu265Phe
ENST00000411732.3:c.643C>T	ENSP00000387634.1:p.Leu215Phe
ENST00000639815.1:n.109-883C>T
ENST00000242480.3:c.793C>T	ENSP00000242480.3:p.Leu265Phe
ENST00000411732.2:c.643C>T	ENSP00000387634.1:p.Leu215Phe
ENST00000439032.4:c.793C>T	ENSP00000402040.1:p.Leu265Phe
NM_000399.3:c.793C>T , LRG_239t1:c.793C>T	NP_000390.2:p.Leu265Phe
NM_001136177.1:c.793C>T	NP_001129649.1:p.Leu265Phe
NM_001136178.1:c.793C>T	NP_001129650.1:p.Leu265Phe
NM_001136179.1:c.643C>T	NP_001129651.1:p.Leu215Phe
XM_011539427.1:c.832C>T	XP_011537729.1:p.Leu278Phe
XM_011539428.1:c.643C>T	XP_011537730.1:p.Leu215Phe
XM_011539429.1:c.643C>T	XP_011537731.1:p.Leu215Phe
NM_000399.4:c.793C>T	NP_000390.2:p.Leu265Phe
NM_001136177.2:c.793C>T	NP_001129649.1:p.Leu265Phe
NM_001136179.2:c.643C>T	NP_001129651.1:p.Leu215Phe
NM_001321037.1:c.643C>T	NP_001307966.1:p.Leu215Phe
NM_000399.5:c.793C>T MANE Select	NP_000390.2:p.Leu265Phe
NM_001136177.3:c.793C>T	NP_001129649.1:p.Leu265Phe
NM_001136179.3:c.643C>T	NP_001129651.1:p.Leu215Phe
NM_001321037.2:c.643C>T	NP_001307966.1:p.Leu215Phe
NM_001136178.2:c.793C>T	NP_001129650.1:p.Leu265Phe