Canonical Allele Identifier: CA377028026

Gene: EGR2

Linked Data

• gnomAD v4: 10-62813620-A-G
• MyVariant Identifiers: chr10:g.64573380A>G (hg19) ; chr10:g.62813620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813620A>G , CM000672.2:g.62813620A>G	GRCh38
NC_000010.10:g.64573380A>G , CM000672.1:g.64573380A>G	GRCh37
NC_000010.9:g.64243386A>G	NCBI36
NG_008936.2:g.111281T>C , LRG_239:g.111281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.868T>C	ENSP00000387634.1:p.Tyr290His
ENST00000439032.6:c.1558T>C	ENSP00000509775.1:n.1558T>C
ENST00000637191.2:c.1018T>C	ENSP00000490154.2:p.Tyr340His
ENST00000690143.1:c.*950T>C	ENSP00000510306.1:n.*950T>C
ENST00000691610.1:c.1057T>C	ENSP00000509830.1:p.Tyr353His
ENST00000242480.4:c.1018T>C MANE Select	ENSP00000242480.3:p.Tyr340His
ENST00000411732.3:c.868T>C	ENSP00000387634.1:p.Tyr290His
ENST00000639815.1:n.109-658T>C
ENST00000242480.3:c.1018T>C	ENSP00000242480.3:p.Tyr340His
ENST00000411732.2:c.868T>C	ENSP00000387634.1:p.Tyr290His
ENST00000439032.4:c.1018T>C	ENSP00000402040.1:p.Tyr340His
NM_000399.3:c.1018T>C , LRG_239t1:c.1018T>C	NP_000390.2:p.Tyr340His
NM_001136177.1:c.1018T>C	NP_001129649.1:p.Tyr340His
NM_001136178.1:c.1018T>C	NP_001129650.1:p.Tyr340His
NM_001136179.1:c.868T>C	NP_001129651.1:p.Tyr290His
XM_011539427.1:c.1057T>C	XP_011537729.1:p.Tyr353His
XM_011539428.1:c.868T>C	XP_011537730.1:p.Tyr290His
XM_011539429.1:c.868T>C	XP_011537731.1:p.Tyr290His
NM_000399.4:c.1018T>C	NP_000390.2:p.Tyr340His
NM_001136177.2:c.1018T>C	NP_001129649.1:p.Tyr340His
NM_001136179.2:c.868T>C	NP_001129651.1:p.Tyr290His
NM_001321037.1:c.868T>C	NP_001307966.1:p.Tyr290His
NM_000399.5:c.1018T>C MANE Select	NP_000390.2:p.Tyr340His
NM_001136177.3:c.1018T>C	NP_001129649.1:p.Tyr340His
NM_001136179.3:c.868T>C	NP_001129651.1:p.Tyr290His
NM_001321037.2:c.868T>C	NP_001307966.1:p.Tyr290His
NM_001136178.2:c.1018T>C	NP_001129650.1:p.Tyr340His