Canonical Allele Identifier: CA377028807

Gene: EGR2

Linked Data

• dbSNP Id: rs1201245940
• gnomAD v2: 10-64573605-G-C
• gnomAD v4: 10-62813845-G-C
• MyVariant Identifiers: chr10:g.64573605G>C (hg19) ; chr10:g.62813845G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000411732.4:c.643C>G	ENSP00000387634.1:p.Leu215Val
ENST00000439032.6:c.1333C>G	ENSP00000509775.1:n.1333C>G
ENST00000637191.2:c.793C>G	ENSP00000490154.2:p.Leu265Val
ENST00000690143.1:c.*725C>G	ENSP00000510306.1:n.*725C>G
ENST00000691610.1:c.832C>G	ENSP00000509830.1:p.Leu278Val
ENST00000242480.4:c.793C>G MANE Select	ENSP00000242480.3:p.Leu265Val
ENST00000411732.3:c.643C>G	ENSP00000387634.1:p.Leu215Val
ENST00000639815.1:n.109-883C>G
ENST00000242480.3:c.793C>G	ENSP00000242480.3:p.Leu265Val
ENST00000411732.2:c.643C>G	ENSP00000387634.1:p.Leu215Val
ENST00000439032.4:c.793C>G	ENSP00000402040.1:p.Leu265Val
NM_000399.3:c.793C>G , LRG_239t1:c.793C>G	NP_000390.2:p.Leu265Val
NM_001136177.1:c.793C>G	NP_001129649.1:p.Leu265Val
NM_001136178.1:c.793C>G	NP_001129650.1:p.Leu265Val
NM_001136179.1:c.643C>G	NP_001129651.1:p.Leu215Val
XM_011539427.1:c.832C>G	XP_011537729.1:p.Leu278Val
XM_011539428.1:c.643C>G	XP_011537730.1:p.Leu215Val
XM_011539429.1:c.643C>G	XP_011537731.1:p.Leu215Val
NM_000399.4:c.793C>G	NP_000390.2:p.Leu265Val
NM_001136177.2:c.793C>G	NP_001129649.1:p.Leu265Val
NM_001136179.2:c.643C>G	NP_001129651.1:p.Leu215Val
NM_001321037.1:c.643C>G	NP_001307966.1:p.Leu215Val
NM_000399.5:c.793C>G MANE Select	NP_000390.2:p.Leu265Val
NM_001136177.3:c.793C>G	NP_001129649.1:p.Leu265Val
NM_001136179.3:c.643C>G	NP_001129651.1:p.Leu215Val
NM_001321037.2:c.643C>G	NP_001307966.1:p.Leu215Val
NM_001136178.2:c.793C>G	NP_001129650.1:p.Leu265Val