Canonical Allele Identifier: CA5517248

Gene: EGR2

Linked Data

• ClinVar Variation Id: 597793
• ClinVar RCV Id: RCV000734025 ; RCV001079407 ; RCV002360861
• dbSNP Id: rs530614586
• ExAC: 10:64573733 A / G
• gnomAD v2: 10-64573733-A-G
• gnomAD v3: 10-62813973-A-G
• gnomAD v4: 10-62813973-A-G
• MyVariant Identifiers: chr10:g.64573733A>G (hg19) ; chr10:g.62813973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62813973A>G , CM000672.2:g.62813973A>G	GRCh38
NC_000010.10:g.64573733A>G , CM000672.1:g.64573733A>G	GRCh37
NC_000010.9:g.64243739A>G	NCBI36
NG_008936.2:g.110928T>C , LRG_239:g.110928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.515T>C	ENSP00000387634.1:p.Met172Thr
ENST00000439032.6:c.1205T>C	ENSP00000509775.1:n.1205T>C
ENST00000637191.2:c.665T>C	ENSP00000490154.2:p.Met222Thr
ENST00000690143.1:c.*597T>C	ENSP00000510306.1:n.*597T>C
ENST00000691610.1:c.704T>C	ENSP00000509830.1:p.Met235Thr
ENST00000242480.4:c.665T>C MANE Select	ENSP00000242480.3:p.Met222Thr
ENST00000411732.3:c.515T>C	ENSP00000387634.1:p.Met172Thr
ENST00000639815.1:n.109-1011T>C
ENST00000242480.3:c.665T>C	ENSP00000242480.3:p.Met222Thr
ENST00000411732.2:c.515T>C	ENSP00000387634.1:p.Met172Thr
ENST00000439032.4:c.665T>C	ENSP00000402040.1:p.Met222Thr
NM_000399.3:c.665T>C , LRG_239t1:c.665T>C	NP_000390.2:p.Met222Thr
NM_001136177.1:c.665T>C	NP_001129649.1:p.Met222Thr
NM_001136178.1:c.665T>C	NP_001129650.1:p.Met222Thr
NM_001136179.1:c.515T>C	NP_001129651.1:p.Met172Thr
XM_011539427.1:c.704T>C	XP_011537729.1:p.Met235Thr
XM_011539428.1:c.515T>C	XP_011537730.1:p.Met172Thr
XM_011539429.1:c.515T>C	XP_011537731.1:p.Met172Thr
NM_000399.4:c.665T>C	NP_000390.2:p.Met222Thr
NM_001136177.2:c.665T>C	NP_001129649.1:p.Met222Thr
NM_001136179.2:c.515T>C	NP_001129651.1:p.Met172Thr
NM_001321037.1:c.515T>C	NP_001307966.1:p.Met172Thr
NM_000399.5:c.665T>C MANE Select	NP_000390.2:p.Met222Thr
NM_001136177.3:c.665T>C	NP_001129649.1:p.Met222Thr
NM_001136179.3:c.515T>C	NP_001129651.1:p.Met172Thr
NM_001321037.2:c.515T>C	NP_001307966.1:p.Met172Thr
NM_001136178.2:c.665T>C	NP_001129650.1:p.Met222Thr