Canonical Allele Identifier: CA2098222

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 287872
• ClinVar RCV Id: RCV000380004 ; RCV001083997 ; RCV002294217 ; RCV003409414
• dbSNP Id: rs145908212
• ExAC: 2:217341937 G / C
• gnomAD v2: 2-217341937-G-C
• gnomAD v3: 2-216477214-G-C
• gnomAD v4: 2-216477214-G-C
• MyVariant Identifiers: chr2:g.217341937G>C (hg19) ; chr2:g.216477214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216477214G>C , CM000664.2:g.216477214G>C	GRCh38
NC_000002.11:g.217341937G>C , CM000664.1:g.217341937G>C	GRCh37
NC_000002.10:g.217050182G>C	NCBI36
NG_009771.1:g.69801G>C , LRG_108:g.69801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2528+5G>C	ENSP00000394410.2:n.2528+5G>C
ENST00000430374.6:c.2528+5G>C	ENSP00000405077.2:n.2528+5G>C
ENST00000444508.6:c.2528+5G>C	ENSP00000398969.2:n.2528+5G>C
ENST00000697899.1:c.2294+5G>C	ENSP00000513470.1:n.2294+5G>C
ENST00000697901.1:c.*1283+5G>C	ENSP00000513471.1:n.*1283+5G>C
ENST00000697903.1:c.*1015+5G>C	ENSP00000513472.1:n.*1015+5G>C
ENST00000697904.1:c.*1015+5G>C	ENSP00000513473.1:n.*1015+5G>C
ENST00000697905.1:c.*1015+5G>C	ENSP00000513474.1:n.*1015+5G>C
ENST00000697906.1:c.2294+5G>C	ENSP00000513475.1:n.2294+5G>C
ENST00000697907.1:c.*1386+5G>C	ENSP00000513476.1:n.*1386+5G>C
ENST00000697908.1:n.2222+5G>C
ENST00000697909.1:n.1420+5G>C
ENST00000697910.1:n.925+5G>C
ENST00000697911.1:n.834+5G>C
ENST00000357276.9:c.2528+5G>C MANE Select	ENSP00000349823.4:n.2528+5G>C
ENST00000357276.8:c.2528+5G>C	ENSP00000349823.4:n.2528+5G>C
ENST00000358207.9:c.2528+5G>C	ENSP00000350940.5:n.2528+5G>C
ENST00000392128.6:c.2054+5G>C	ENSP00000375974.2:n.2054+5G>C
NM_001127207.1:c.2528+5G>C	NP_001120679.1:n.2528+5G>C
NM_014140.3:c.2528+5G>C , LRG_108t1:c.2528+5G>C	NP_054859.2:n.2528+5G>C
XM_005246631.2:c.2528+5G>C	XP_005246688.1:n.2528+5G>C
XM_005246632.1:c.2528+5G>C	XP_005246689.1:n.2528+5G>C
XM_006712557.1:c.2462+5G>C	XP_006712620.1:n.2462+5G>C
XM_005246632.2:c.2528+5G>C	XP_005246689.1:n.2528+5G>C
XM_017004228.2:c.1616+5G>C	XP_016859717.1:n.1616+5G>C
NM_001127207.2:c.2528+5G>C	NP_001120679.1:n.2528+5G>C
NM_014140.4:c.2528+5G>C MANE Select	NP_054859.2:n.2528+5G>C