Canonical Allele Identifier: CA2098145

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 260343
• ClinVar RCV Id: RCV000247869 ; RCV000348154
• dbSNP Id: rs2271335
• ExAC: 2:217332751 G / A
• gnomAD v2: 2-217332751-G-A
• gnomAD v3: 2-216468028-G-A
• gnomAD v4: 2-216468028-G-A
• COSMIC: COSM80551
• MyVariant Identifiers: chr2:g.217332751G>A (hg19) ; chr2:g.216468028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216468028G>A , CM000664.2:g.216468028G>A	GRCh38
NC_000002.11:g.217332751G>A , CM000664.1:g.217332751G>A	GRCh37
NC_000002.10:g.217040996G>A	NCBI36
NG_009771.1:g.60615G>A , LRG_108:g.60615G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.2226G>A	ENSP00000394410.2:p.Thr742=
ENST00000430374.6:c.2226G>A	ENSP00000405077.2:p.Thr742=
ENST00000444508.6:c.2226G>A	ENSP00000398969.2:p.Thr742=
ENST00000697898.1:n.2587G>A
ENST00000697899.1:c.1992G>A	ENSP00000513470.1:p.Thr664=
ENST00000697901.1:c.*999+3361G>A	ENSP00000513471.1:n.*999+3361G>A
ENST00000697903.1:c.*713G>A	ENSP00000513472.1:n.*713G>A
ENST00000697904.1:c.*713G>A	ENSP00000513473.1:n.*713G>A
ENST00000697905.1:c.*713G>A	ENSP00000513474.1:n.*713G>A
ENST00000697906.1:c.1992G>A	ENSP00000513475.1:p.Thr664=
ENST00000697907.1:c.*1084G>A	ENSP00000513476.1:n.*1084G>A
ENST00000697908.1:n.1938+3361G>A
ENST00000697909.1:n.1118G>A
ENST00000357276.9:c.2226G>A MANE Select	ENSP00000349823.4:p.Thr742=
ENST00000357276.8:c.2226G>A	ENSP00000349823.4:p.Thr742=
ENST00000358207.9:c.2226G>A	ENSP00000350940.5:p.Thr742=
ENST00000392128.6:c.1752G>A	ENSP00000375974.2:p.Thr584=
NM_001127207.1:c.2226G>A	NP_001120679.1:p.Thr742=
NM_014140.3:c.2226G>A , LRG_108t1:c.2226G>A	NP_054859.2:p.Thr742=
XM_005246631.2:c.2226G>A	XP_005246688.1:p.Thr742=
XM_005246632.1:c.2226G>A	XP_005246689.1:p.Thr742=
XM_006712557.1:c.2160G>A	XP_006712620.1:p.Thr720=
XM_005246632.2:c.2226G>A	XP_005246689.1:p.Thr742=
XM_017004228.2:c.1314G>A	XP_016859717.1:p.Thr438=
NM_001127207.2:c.2226G>A	NP_001120679.1:p.Thr742=
NM_014140.4:c.2226G>A MANE Select	NP_054859.2:p.Thr742=