Canonical Allele Identifier: CA377031547

Gene: EGR2

Linked Data

• ClinVar Variation Id: 430425
• ClinVar RCV Id: RCV000493614
• dbSNP Id: rs1131691956
• MyVariant Identifiers: chr10:g.64574090G>A (hg19) ; chr10:g.62814330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62814330G>A , CM000672.2:g.62814330G>A	GRCh38
NC_000010.10:g.64574090G>A , CM000672.1:g.64574090G>A	GRCh37
NC_000010.9:g.64244096G>A	NCBI36
NG_008936.2:g.110571C>T , LRG_239:g.110571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.158C>T	ENSP00000387634.1:p.Pro53Leu
ENST00000439032.6:c.848C>T	ENSP00000509775.1:n.848C>T
ENST00000637191.2:c.308C>T	ENSP00000490154.2:p.Pro103Leu
ENST00000690143.1:c.*240C>T	ENSP00000510306.1:n.*240C>T
ENST00000691610.1:c.347C>T	ENSP00000509830.1:p.Pro116Leu
ENST00000242480.4:c.308C>T MANE Select	ENSP00000242480.3:p.Pro103Leu
ENST00000411732.3:c.158C>T	ENSP00000387634.1:p.Pro53Leu
ENST00000637191.1:c.308C>T	ENSP00000490154.1:p.Pro103Leu
ENST00000639815.1:n.109-1368C>T
ENST00000242480.3:c.308C>T	ENSP00000242480.3:p.Pro103Leu
ENST00000411732.2:c.158C>T	ENSP00000387634.1:p.Pro53Leu
ENST00000439032.4:c.308C>T	ENSP00000402040.1:p.Pro103Leu
NM_000399.3:c.308C>T , LRG_239t1:c.308C>T	NP_000390.2:p.Pro103Leu
NM_001136177.1:c.308C>T	NP_001129649.1:p.Pro103Leu
NM_001136178.1:c.308C>T	NP_001129650.1:p.Pro103Leu
NM_001136179.1:c.158C>T	NP_001129651.1:p.Pro53Leu
XM_011539427.1:c.347C>T	XP_011537729.1:p.Pro116Leu
XM_011539428.1:c.158C>T	XP_011537730.1:p.Pro53Leu
XM_011539429.1:c.158C>T	XP_011537731.1:p.Pro53Leu
NM_000399.4:c.308C>T	NP_000390.2:p.Pro103Leu
NM_001136177.2:c.308C>T	NP_001129649.1:p.Pro103Leu
NM_001136179.2:c.158C>T	NP_001129651.1:p.Pro53Leu
NM_001321037.1:c.158C>T	NP_001307966.1:p.Pro53Leu
NM_000399.5:c.308C>T MANE Select	NP_000390.2:p.Pro103Leu
NM_001136177.3:c.308C>T	NP_001129649.1:p.Pro103Leu
NM_001136179.3:c.158C>T	NP_001129651.1:p.Pro53Leu
NM_001321037.2:c.158C>T	NP_001307966.1:p.Pro53Leu
NM_001136178.2:c.308C>T	NP_001129650.1:p.Pro103Leu