Canonical Allele Identifier: CA2098212

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 827737
• ClinVar RCV Id: RCV001027621 ; RCV001040718 ; RCV001269553
• dbSNP Id: rs200666300
• ExAC: 2:217341863 G / A
• gnomAD v2: 2-217341863-G-A
• gnomAD v3: 2-216477140-G-A
• gnomAD v4: 2-216477140-G-A
• COSMIC: COSM6310488
• MyVariant Identifiers: chr2:g.217341863G>A (hg19) ; chr2:g.216477140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477140G>A , CM000664.2:g.216477140G>A	GRCh38
NC_000002.11:g.217341863G>A , CM000664.1:g.217341863G>A	GRCh37
NC_000002.10:g.217050108G>A	NCBI36
NG_009771.1:g.69727G>A , LRG_108:g.69727G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2459G>A	ENSP00000394410.2:p.Arg820His
ENST00000430374.6:c.2459G>A	ENSP00000405077.2:p.Arg820His
ENST00000444508.6:c.2459G>A	ENSP00000398969.2:p.Arg820His
ENST00000697899.1:c.2225G>A	ENSP00000513470.1:p.Arg742His
ENST00000697901.1:c.*1214G>A	ENSP00000513471.1:n.*1214G>A
ENST00000697903.1:c.*946G>A	ENSP00000513472.1:n.*946G>A
ENST00000697904.1:c.*946G>A	ENSP00000513473.1:n.*946G>A
ENST00000697905.1:c.*946G>A	ENSP00000513474.1:n.*946G>A
ENST00000697906.1:c.2225G>A	ENSP00000513475.1:p.Arg742His
ENST00000697907.1:c.*1317G>A	ENSP00000513476.1:n.*1317G>A
ENST00000697908.1:n.2153G>A
ENST00000697909.1:n.1351G>A
ENST00000697910.1:n.856G>A
ENST00000697911.1:n.765G>A
ENST00000357276.9:c.2459G>A MANE Select	ENSP00000349823.4:p.Arg820His
ENST00000357276.8:c.2459G>A	ENSP00000349823.4:p.Arg820His
ENST00000358207.9:c.2459G>A	ENSP00000350940.5:p.Arg820His
ENST00000392128.6:c.1985G>A	ENSP00000375974.2:p.Arg662His
NM_001127207.1:c.2459G>A	NP_001120679.1:p.Arg820His
NM_014140.3:c.2459G>A , LRG_108t1:c.2459G>A	NP_054859.2:p.Arg820His
XM_005246631.2:c.2459G>A	XP_005246688.1:p.Arg820His
XM_005246632.1:c.2459G>A	XP_005246689.1:p.Arg820His
XM_006712557.1:c.2393G>A	XP_006712620.1:p.Arg798His
XM_005246632.2:c.2459G>A	XP_005246689.1:p.Arg820His
XM_017004228.2:c.1547G>A	XP_016859717.1:p.Arg516His
NM_001127207.2:c.2459G>A	NP_001120679.1:p.Arg820His
NM_014140.4:c.2459G>A MANE Select	NP_054859.2:p.Arg820His