Canonical Allele Identifier: CA377030723

Gene: EGR2

Linked Data

• ClinVar Variation Id: 1346724
• ClinVar RCV Id: RCV002030160
• dbSNP Id: rs2132706614
• gnomAD v4: 10-62814223-C-A
• MyVariant Identifiers: chr10:g.64573983C>A (hg19) ; chr10:g.62814223C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.62814223C>A , CM000672.2:g.62814223C>A	GRCh38
NC_000010.10:g.64573983C>A , CM000672.1:g.64573983C>A	GRCh37
NC_000010.9:g.64243989C>A	NCBI36
NG_008936.2:g.110678G>T , LRG_239:g.110678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411732.4:c.265G>T	ENSP00000387634.1:p.Ala89Ser
ENST00000439032.6:c.955G>T	ENSP00000509775.1:n.955G>T
ENST00000637191.2:c.415G>T	ENSP00000490154.2:p.Ala139Ser
ENST00000690143.1:c.*347G>T	ENSP00000510306.1:n.*347G>T
ENST00000691610.1:c.454G>T	ENSP00000509830.1:p.Ala152Ser
ENST00000242480.4:c.415G>T MANE Select	ENSP00000242480.3:p.Ala139Ser
ENST00000411732.3:c.265G>T	ENSP00000387634.1:p.Ala89Ser
ENST00000637191.1:c.415G>T	ENSP00000490154.1:p.Ala139Ser
ENST00000639815.1:n.109-1261G>T
ENST00000242480.3:c.415G>T	ENSP00000242480.3:p.Ala139Ser
ENST00000411732.2:c.265G>T	ENSP00000387634.1:p.Ala89Ser
ENST00000439032.4:c.415G>T	ENSP00000402040.1:p.Ala139Ser
NM_000399.3:c.415G>T , LRG_239t1:c.415G>T	NP_000390.2:p.Ala139Ser
NM_001136177.1:c.415G>T	NP_001129649.1:p.Ala139Ser
NM_001136178.1:c.415G>T	NP_001129650.1:p.Ala139Ser
NM_001136179.1:c.265G>T	NP_001129651.1:p.Ala89Ser
XM_011539427.1:c.454G>T	XP_011537729.1:p.Ala152Ser
XM_011539428.1:c.265G>T	XP_011537730.1:p.Ala89Ser
XM_011539429.1:c.265G>T	XP_011537731.1:p.Ala89Ser
NM_000399.4:c.415G>T	NP_000390.2:p.Ala139Ser
NM_001136177.2:c.415G>T	NP_001129649.1:p.Ala139Ser
NM_001136179.2:c.265G>T	NP_001129651.1:p.Ala89Ser
NM_001321037.1:c.265G>T	NP_001307966.1:p.Ala89Ser
NM_000399.5:c.415G>T MANE Select	NP_000390.2:p.Ala139Ser
NM_001136177.3:c.415G>T	NP_001129649.1:p.Ala139Ser
NM_001136179.3:c.265G>T	NP_001129651.1:p.Ala89Ser
NM_001321037.2:c.265G>T	NP_001307966.1:p.Ala89Ser
NM_001136178.2:c.415G>T	NP_001129650.1:p.Ala139Ser