Canonical Allele Identifier: CA2098302

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 282339
• ClinVar RCV Id: RCV000360943 ; RCV001440909 ; RCV003909931
• dbSNP Id: rs373335368
• ExAC: 2:217347613 G / A
• gnomAD v2: 2-217347613-G-A
• gnomAD v3: 2-216482890-G-A
• gnomAD v4: 2-216482890-G-A
• MyVariant Identifiers: chr2:g.217347613G>A (hg19) ; chr2:g.216482890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482890G>A , CM000664.2:g.216482890G>A	GRCh38
NC_000002.11:g.217347613G>A , CM000664.1:g.217347613G>A	GRCh37
NC_000002.10:g.217055858G>A	NCBI36
NG_009771.1:g.75477G>A , LRG_108:g.75477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2778G>A	ENSP00000394410.2:p.Leu926=
ENST00000430374.6:c.2778G>A	ENSP00000405077.2:p.Leu926=
ENST00000444508.6:c.2778G>A	ENSP00000398969.2:p.Leu926=
ENST00000697899.1:c.2544G>A	ENSP00000513470.1:p.Leu848=
ENST00000697901.1:c.*1533G>A	ENSP00000513471.1:n.*1533G>A
ENST00000697903.1:c.*1265G>A	ENSP00000513472.1:n.*1265G>A
ENST00000697904.1:c.*1265G>A	ENSP00000513473.1:n.*1265G>A
ENST00000697905.1:c.*1265G>A	ENSP00000513474.1:n.*1265G>A
ENST00000697906.1:c.2544G>A	ENSP00000513475.1:p.Leu848=
ENST00000697907.1:c.*1636G>A	ENSP00000513476.1:n.*1636G>A
ENST00000697909.1:n.1670G>A
ENST00000697910.1:n.1175G>A
ENST00000357276.9:c.2778G>A MANE Select	ENSP00000349823.4:p.Leu926=
ENST00000357276.8:c.2778G>A	ENSP00000349823.4:p.Leu926=
ENST00000358207.9:c.2778G>A	ENSP00000350940.5:p.Leu926=
ENST00000392128.6:c.2304G>A	ENSP00000375974.2:p.Leu768=
NM_001127207.1:c.2778G>A	NP_001120679.1:p.Leu926=
NM_014140.3:c.2778G>A , LRG_108t1:c.2778G>A	NP_054859.2:p.Leu926=
XM_005246631.2:c.2778G>A	XP_005246688.1:p.Leu926=
XM_005246632.1:c.2778G>A	XP_005246689.1:p.Leu926=
XM_006712557.1:c.2712G>A	XP_006712620.1:p.Leu904=
XM_005246632.2:c.2778G>A	XP_005246689.1:p.Leu926=
XM_017004228.2:c.1866G>A	XP_016859717.1:p.Leu622=
NM_001127207.2:c.2778G>A	NP_001120679.1:p.Leu926=
NM_014140.4:c.2778G>A MANE Select	NP_054859.2:p.Leu926=