Canonical Allele Identifier: CA377027376

Gene: EGR2

Linked Data

• ClinVar Variation Id: 569402
• ClinVar RCV Id: RCV000690020
• dbSNP Id: rs1564705972
• MyVariant Identifiers: chr10:g.64573199C>G (hg19) ; chr10:g.62813439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813439C>G , CM000672.2:g.62813439C>G	GRCh38
NC_000010.10:g.64573199C>G , CM000672.1:g.64573199C>G	GRCh37
NC_000010.9:g.64243205C>G	NCBI36
NG_008936.2:g.111462G>C , LRG_239:g.111462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.1049G>C	ENSP00000387634.1:p.Cys350Ser
ENST00000439032.6:c.1739G>C	ENSP00000509775.1:n.1739G>C
ENST00000637191.2:c.1199G>C	ENSP00000490154.2:p.Cys400Ser
ENST00000690143.1:c.*1131G>C	ENSP00000510306.1:n.*1131G>C
ENST00000691610.1:c.1238G>C	ENSP00000509830.1:p.Cys413Ser
ENST00000242480.4:c.1199G>C MANE Select	ENSP00000242480.3:p.Cys400Ser
ENST00000411732.3:c.1049G>C	ENSP00000387634.1:p.Cys350Ser
ENST00000639815.1:n.109-477G>C
ENST00000242480.3:c.1199G>C	ENSP00000242480.3:p.Cys400Ser
ENST00000411732.2:c.1049G>C	ENSP00000387634.1:p.Cys350Ser
ENST00000439032.4:c.1199G>C	ENSP00000402040.1:p.Cys400Ser
NM_000399.3:c.1199G>C , LRG_239t1:c.1199G>C	NP_000390.2:p.Cys400Ser
NM_001136177.1:c.1199G>C	NP_001129649.1:p.Cys400Ser
NM_001136178.1:c.1199G>C	NP_001129650.1:p.Cys400Ser
NM_001136179.1:c.1049G>C	NP_001129651.1:p.Cys350Ser
XM_011539427.1:c.1238G>C	XP_011537729.1:p.Cys413Ser
XM_011539428.1:c.1049G>C	XP_011537730.1:p.Cys350Ser
XM_011539429.1:c.1049G>C	XP_011537731.1:p.Cys350Ser
NM_000399.4:c.1199G>C	NP_000390.2:p.Cys400Ser
NM_001136177.2:c.1199G>C	NP_001129649.1:p.Cys400Ser
NM_001136179.2:c.1049G>C	NP_001129651.1:p.Cys350Ser
NM_001321037.1:c.1049G>C	NP_001307966.1:p.Cys350Ser
NM_000399.5:c.1199G>C MANE Select	NP_000390.2:p.Cys400Ser
NM_001136177.3:c.1199G>C	NP_001129649.1:p.Cys400Ser
NM_001136179.3:c.1049G>C	NP_001129651.1:p.Cys350Ser
NM_001321037.2:c.1049G>C	NP_001307966.1:p.Cys350Ser
NM_001136178.2:c.1199G>C	NP_001129650.1:p.Cys400Ser