Canonical Allele Identifier: CA469996852

Gene: EGR2

Linked Data

• ClinVar Variation Id: 2065586
• ClinVar RCV Id: RCV002958583
• MyVariant Identifiers: chr10:g.64573408G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813648G>C , CM000672.2:g.62813648G>C	GRCh38
NC_000010.10:g.64573408G>C , CM000672.1:g.64573408G>C	GRCh37
NC_000010.9:g.64243414G>C	NCBI36
NG_008936.2:g.111253C>G , LRG_239:g.111253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.840C>G	ENSP00000387634.1:p.Pro280=
ENST00000439032.6:c.1530C>G	ENSP00000509775.1:n.1530C>G
ENST00000637191.2:c.990C>G	ENSP00000490154.2:p.Pro330=
ENST00000690143.1:c.*922C>G	ENSP00000510306.1:n.*922C>G
ENST00000691610.1:c.1029C>G	ENSP00000509830.1:p.Pro343=
ENST00000242480.4:c.990C>G MANE Select	ENSP00000242480.3:p.Pro330=
ENST00000411732.3:c.840C>G	ENSP00000387634.1:p.Pro280=
ENST00000639815.1:n.109-686C>G
ENST00000242480.3:c.990C>G	ENSP00000242480.3:p.Pro330=
ENST00000411732.2:c.840C>G	ENSP00000387634.1:p.Pro280=
ENST00000439032.4:c.990C>G	ENSP00000402040.1:p.Pro330=
NM_000399.3:c.990C>G , LRG_239t1:c.990C>G	NP_000390.2:p.Pro330=
NM_001136177.1:c.990C>G	NP_001129649.1:p.Pro330=
NM_001136178.1:c.990C>G	NP_001129650.1:p.Pro330=
NM_001136179.1:c.840C>G	NP_001129651.1:p.Pro280=
XM_011539427.1:c.1029C>G	XP_011537729.1:p.Pro343=
XM_011539428.1:c.840C>G	XP_011537730.1:p.Pro280=
XM_011539429.1:c.840C>G	XP_011537731.1:p.Pro280=
NM_000399.4:c.990C>G	NP_000390.2:p.Pro330=
NM_001136177.2:c.990C>G	NP_001129649.1:p.Pro330=
NM_001136179.2:c.840C>G	NP_001129651.1:p.Pro280=
NM_001321037.1:c.840C>G	NP_001307966.1:p.Pro280=
NM_000399.5:c.990C>G MANE Select	NP_000390.2:p.Pro330=
NM_001136177.3:c.990C>G	NP_001129649.1:p.Pro330=
NM_001136179.3:c.840C>G	NP_001129651.1:p.Pro280=
NM_001321037.2:c.840C>G	NP_001307966.1:p.Pro280=
NM_001136178.2:c.990C>G	NP_001129650.1:p.Pro330=