Canonical Allele Identifier: CA2098253

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 1492665
• ClinVar RCV Id: RCV002012467
• dbSNP Id: rs759400963
• ExAC: 2:217342986 T / G
• gnomAD v2: 2-217342986-T-G
• gnomAD v4: 2-216478263-T-G
• MyVariant Identifiers: chr2:g.217342986T>G (hg19) ; chr2:g.216478263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478263T>G , CM000664.2:g.216478263T>G	GRCh38
NC_000002.11:g.217342986T>G , CM000664.1:g.217342986T>G	GRCh37
NC_000002.10:g.217051231T>G	NCBI36
NG_009771.1:g.70850T>G , LRG_108:g.70850T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2589T>G	ENSP00000394410.2:p.Phe863Leu
ENST00000430374.6:c.2589T>G	ENSP00000405077.2:p.Phe863Leu
ENST00000444508.6:c.2589T>G	ENSP00000398969.2:p.Phe863Leu
ENST00000697899.1:c.2355T>G	ENSP00000513470.1:p.Phe785Leu
ENST00000697901.1:c.*1344T>G	ENSP00000513471.1:n.*1344T>G
ENST00000697903.1:c.*1076T>G	ENSP00000513472.1:n.*1076T>G
ENST00000697904.1:c.*1076T>G	ENSP00000513473.1:n.*1076T>G
ENST00000697905.1:c.*1076T>G	ENSP00000513474.1:n.*1076T>G
ENST00000697906.1:c.2355T>G	ENSP00000513475.1:p.Phe785Leu
ENST00000697907.1:c.*1447T>G	ENSP00000513476.1:n.*1447T>G
ENST00000697908.1:n.2283T>G
ENST00000697909.1:n.1481T>G
ENST00000697910.1:n.986T>G
ENST00000697911.1:n.895T>G
ENST00000357276.9:c.2589T>G MANE Select	ENSP00000349823.4:p.Phe863Leu
ENST00000357276.8:c.2589T>G	ENSP00000349823.4:p.Phe863Leu
ENST00000358207.9:c.2589T>G	ENSP00000350940.5:p.Phe863Leu
ENST00000392128.6:c.2115T>G	ENSP00000375974.2:p.Phe705Leu
NM_001127207.1:c.2589T>G	NP_001120679.1:p.Phe863Leu
NM_014140.3:c.2589T>G , LRG_108t1:c.2589T>G	NP_054859.2:p.Phe863Leu
XM_005246631.2:c.2589T>G	XP_005246688.1:p.Phe863Leu
XM_005246632.1:c.2589T>G	XP_005246689.1:p.Phe863Leu
XM_006712557.1:c.2523T>G	XP_006712620.1:p.Phe841Leu
XM_005246632.2:c.2589T>G	XP_005246689.1:p.Phe863Leu
XM_017004228.2:c.1677T>G	XP_016859717.1:p.Phe559Leu
NM_001127207.2:c.2589T>G	NP_001120679.1:p.Phe863Leu
NM_014140.4:c.2589T>G MANE Select	NP_054859.2:p.Phe863Leu