Canonical Allele Identifier: CA346373860

Gene: SOS1

Linked Data

• ClinVar Variation Id: 477721
• ClinVar RCV Id: RCV000544063 ; RCV001591305 ; RCV002467898
• dbSNP Id: rs1553362937
• COSMIC: COSM323528
• MyVariant Identifiers: chr2:g.39285854G>C (hg19) ; chr2:g.39058713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39058713G>C , CM000664.2:g.39058713G>C	GRCh38
NC_000002.11:g.39285854G>C , CM000664.1:g.39285854G>C	GRCh37
NC_000002.10:g.39139358G>C	NCBI36
NG_007530.1:g.66751C>G , LRG_754:g.66751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.332C>G
ENST00000685782.1:n.1143C>G
ENST00000688189.1:n.70C>G
ENST00000689668.1:n.312C>G
ENST00000690679.1:c.405C>G
ENST00000690876.1:c.305C>G	ENSP00000508955.1:p.Pro102Arg
ENST00000691229.1:c.305C>G	ENSP00000510437.1:p.Pro102Arg
ENST00000692089.1:c.305C>G	ENSP00000508626.1:p.Pro102Arg
ENST00000402219.8:c.305C>G MANE Select	ENSP00000384675.2:p.Pro102Arg
ENST00000395038.6:c.305C>G	ENSP00000378479.2:p.Pro102Arg
ENST00000402219.6:c.305C>G	ENSP00000384675.2:p.Pro102Arg
ENST00000426016.5:c.305C>G	ENSP00000387784.1:p.Pro102Arg
ENST00000451331.1:c.134C>G	ENSP00000393899.1:p.Pro45Arg
NM_005633.3:c.305C>G , LRG_754t1:c.305C>G	NP_005624.2:p.Pro102Arg
XM_005264515.3:c.305C>G	XP_005264572.1:p.Pro102Arg
XM_011533060.1:c.398C>G	XP_011531362.1:p.Pro133Arg
XM_011533061.1:c.398C>G	XP_011531363.1:p.Pro133Arg
XM_011533062.1:c.284C>G	XP_011531364.1:p.Pro95Arg
XM_011533063.1:c.281C>G	XP_011531365.1:p.Pro94Arg
XM_011533064.1:c.134C>G	XP_011531366.1:p.Pro45Arg
XM_011533065.1:c.398C>G	XP_011531367.1:p.Pro133Arg
XM_005264515.4:c.305C>G	XP_005264572.1:p.Pro102Arg
XM_011533062.2:c.284C>G	XP_011531364.1:p.Pro95Arg
XM_011533064.2:c.134C>G	XP_011531366.1:p.Pro45Arg
NM_001382394.1:c.284C>G	NP_001369323.1:p.Pro95Arg
NM_001382395.1:c.305C>G	NP_001369324.1:p.Pro102Arg
NM_005633.4:c.305C>G MANE Select	NP_005624.2:p.Pro102Arg