Canonical Allele Identifier: CA2097592

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 796955
• ClinVar RCV Id: RCV001483889
• dbSNP Id: rs767158204
• ExAC: 2:217279853 G / A
• gnomAD v2: 2-217279853-G-A
• gnomAD v3: 2-216415130-G-A
• gnomAD v4: 2-216415130-G-A
• MyVariant Identifiers: chr2:g.217279853G>A (hg19) ; chr2:g.216415130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415130G>A , CM000664.2:g.216415130G>A	GRCh38
NC_000002.11:g.217279853G>A , CM000664.1:g.217279853G>A	GRCh37
NC_000002.10:g.216988098G>A	NCBI36
NG_009771.1:g.7717G>A , LRG_108:g.7717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.426G>A	ENSP00000394410.2:p.Glu142=
ENST00000430374.6:c.426G>A	ENSP00000405077.2:p.Glu142=
ENST00000444508.6:c.426G>A	ENSP00000398969.2:p.Glu142=
ENST00000697898.1:n.787G>A
ENST00000697899.1:c.426G>A	ENSP00000513470.1:p.Glu142=
ENST00000697900.1:n.702G>A
ENST00000697901.1:c.426G>A	ENSP00000513471.1:p.Glu142=
ENST00000697902.1:n.658G>A
ENST00000697903.1:c.426G>A	ENSP00000513472.1:p.Glu142=
ENST00000697904.1:c.426G>A	ENSP00000513473.1:p.Glu142=
ENST00000697905.1:c.426G>A	ENSP00000513474.1:p.Glu142=
ENST00000697906.1:c.426G>A	ENSP00000513475.1:p.Glu142=
ENST00000697907.1:c.426G>A	ENSP00000513476.1:p.Glu142=
ENST00000357276.9:c.426G>A MANE Select	ENSP00000349823.4:p.Glu142=
ENST00000357276.8:c.426G>A	ENSP00000349823.4:p.Glu142=
ENST00000358207.9:c.426G>A	ENSP00000350940.5:p.Glu142=
ENST00000392128.6:c.18G>A	ENSP00000375974.2:p.Glu6=
ENST00000427645.5:c.123G>A	ENSP00000392997.1:p.Glu41=
ENST00000430374.5:c.426G>A	ENSP00000405077.1:p.Glu142=
NM_001127207.1:c.426G>A	NP_001120679.1:p.Glu142=
NM_014140.3:c.426G>A , LRG_108t1:c.426G>A	NP_054859.2:p.Glu142=
XM_005246631.2:c.426G>A	XP_005246688.1:p.Glu142=
XM_005246632.1:c.426G>A	XP_005246689.1:p.Glu142=
XM_006712557.1:c.426G>A	XP_006712620.1:p.Glu142=
XM_005246632.2:c.426G>A	XP_005246689.1:p.Glu142=
XM_017004228.2:c.-491G>A	XP_016859717.1:n.-491G>A
NM_001127207.2:c.426G>A	NP_001120679.1:p.Glu142=
NM_014140.4:c.426G>A MANE Select	NP_054859.2:p.Glu142=