Canonical Allele Identifier: CA2098166

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 761408
• ClinVar RCV Id: RCV000939452
• dbSNP Id: rs775975242
• ExAC: 2:217339994 C / T
• gnomAD v2: 2-217339994-C-T
• gnomAD v3: 2-216475271-C-T
• gnomAD v4: 2-216475271-C-T
• MyVariant Identifiers: chr2:g.217339994C>T (hg19) ; chr2:g.216475271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475271C>T , CM000664.2:g.216475271C>T	GRCh38
NC_000002.11:g.217339994C>T , CM000664.1:g.217339994C>T	GRCh37
NC_000002.10:g.217048239C>T	NCBI36
NG_009771.1:g.67858C>T , LRG_108:g.67858C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2247C>T	ENSP00000394410.2:p.His749=
ENST00000430374.6:c.2247C>T	ENSP00000405077.2:p.His749=
ENST00000444508.6:c.2247C>T	ENSP00000398969.2:p.His749=
ENST00000697899.1:c.2013C>T	ENSP00000513470.1:p.His671=
ENST00000697901.1:c.*1002C>T	ENSP00000513471.1:n.*1002C>T
ENST00000697903.1:c.*734C>T	ENSP00000513472.1:n.*734C>T
ENST00000697904.1:c.*734C>T	ENSP00000513473.1:n.*734C>T
ENST00000697905.1:c.*734C>T	ENSP00000513474.1:n.*734C>T
ENST00000697906.1:c.2013C>T	ENSP00000513475.1:p.His671=
ENST00000697907.1:c.*1105C>T	ENSP00000513476.1:n.*1105C>T
ENST00000697908.1:n.1941C>T
ENST00000697909.1:n.1139C>T
ENST00000697910.1:n.644C>T
ENST00000697911.1:n.553C>T
ENST00000357276.9:c.2247C>T MANE Select	ENSP00000349823.4:p.His749=
ENST00000357276.8:c.2247C>T	ENSP00000349823.4:p.His749=
ENST00000358207.9:c.2247C>T	ENSP00000350940.5:p.His749=
ENST00000392128.6:c.1773C>T	ENSP00000375974.2:p.His591=
NM_001127207.1:c.2247C>T	NP_001120679.1:p.His749=
NM_014140.3:c.2247C>T , LRG_108t1:c.2247C>T	NP_054859.2:p.His749=
XM_005246631.2:c.2247C>T	XP_005246688.1:p.His749=
XM_005246632.1:c.2247C>T	XP_005246689.1:p.His749=
XM_006712557.1:c.2181C>T	XP_006712620.1:p.His727=
XM_005246632.2:c.2247C>T	XP_005246689.1:p.His749=
XM_017004228.2:c.1335C>T	XP_016859717.1:p.His445=
NM_001127207.2:c.2247C>T	NP_001120679.1:p.His749=
NM_014140.4:c.2247C>T MANE Select	NP_054859.2:p.His749=