Canonical Allele Identifier: CA261746

Gene: SOS1

Linked Data

• ClinVar Variation Id: 45379
• ClinVar RCV Id: RCV000038575 ; RCV000255002 ; RCV001852808 ; RCV001813362 ; RCV002255093
• dbSNP Id: rs397517180
• COSMIC: COSM575083
• MyVariant Identifiers: chr2:g.39262581C>A (hg19) ; chr2:g.39035440C>A (hg38)
• PubMed: PMID:1758637 ; PMID:17143285 ; PMID:17586837 ; PMID:18651097

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39035440C>A , CM000664.2:g.39035440C>A	GRCh38
NC_000002.11:g.39262581C>A , CM000664.1:g.39262581C>A	GRCh37
NC_000002.10:g.39116085C>A	NCBI36
NG_007530.1:g.90024G>T , LRG_754:g.90024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.952G>T
ENST00000472480.2:n.805G>T
ENST00000685782.1:n.1763G>T
ENST00000689668.1:n.932G>T
ENST00000690679.1:c.1025G>T
ENST00000690876.1:c.865-130G>T	ENSP00000508955.1:n.865-130G>T
ENST00000691229.1:c.865-130G>T	ENSP00000510437.1:n.865-130G>T
ENST00000692089.1:c.865-130G>T	ENSP00000508626.1:n.865-130G>T
ENST00000402219.8:c.925G>T MANE Select	ENSP00000384675.2:p.Asp309Tyr
ENST00000395038.6:c.925G>T	ENSP00000378479.2:p.Asp309Tyr
ENST00000402219.6:c.925G>T	ENSP00000384675.2:p.Asp309Tyr
ENST00000426016.5:c.925G>T	ENSP00000387784.1:p.Asp309Tyr
ENST00000461545.1:n.275G>T
NM_005633.3:c.925G>T , LRG_754t1:c.925G>T	NP_005624.2:p.Asp309Tyr
XM_005264515.3:c.925G>T	XP_005264572.1:p.Asp309Tyr
XM_011533060.1:c.1018G>T	XP_011531362.1:p.Asp340Tyr
XM_011533061.1:c.1018G>T	XP_011531363.1:p.Asp340Tyr
XM_011533062.1:c.904G>T	XP_011531364.1:p.Asp302Tyr
XM_011533063.1:c.901G>T	XP_011531365.1:p.Asp301Tyr
XM_011533064.1:c.754G>T	XP_011531366.1:p.Asp252Tyr
XM_011533065.1:c.1018G>T	XP_011531367.1:p.Asp340Tyr
XM_005264515.4:c.925G>T	XP_005264572.1:p.Asp309Tyr
XM_011533062.2:c.904G>T	XP_011531364.1:p.Asp302Tyr
XM_011533064.2:c.754G>T	XP_011531366.1:p.Asp252Tyr
NM_001382394.1:c.904G>T	NP_001369323.1:p.Asp302Tyr
NM_001382395.1:c.925G>T	NP_001369324.1:p.Asp309Tyr
NM_005633.4:c.925G>T MANE Select	NP_005624.2:p.Asp309Tyr