Canonical Allele Identifier: CA273441

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40673
• ClinVar RCV Id: RCV000154314 ; RCV000159166 ; RCV000534974 ; RCV002467511
• dbSNP Id: rs727504295
• gnomAD v4: 2-39023106-C-T
• COSMIC: COSM3372774
• MyVariant Identifiers: chr2:g.39250247C>T (hg19) ; chr2:g.39023106C>T (hg38)
• PubMed: PMID:17143282 ; PMID:17586837 ; PMID:20133692 ; PMID:21387466

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023106C>T , CM000664.2:g.39023106C>T	GRCh38
NC_000002.11:g.39250247C>T , CM000664.1:g.39250247C>T	GRCh37
NC_000002.10:g.39103751C>T	NCBI36
NG_007530.1:g.102358G>A , LRG_754:g.102358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1202G>A
ENST00000685279.1:c.89G>A	ENSP00000509424.1:p.Cys30Tyr
ENST00000688043.1:n.1543G>A
ENST00000689668.1:n.1329G>A
ENST00000690876.1:c.1211G>A	ENSP00000508955.1:p.Cys404Tyr
ENST00000691229.1:c.1211G>A	ENSP00000510437.1:p.Cys404Tyr
ENST00000692089.1:c.1211G>A	ENSP00000508626.1:p.Cys404Tyr
ENST00000692620.1:c.89G>A	ENSP00000509311.1:p.Cys30Tyr
ENST00000402219.8:c.1322G>A MANE Select	ENSP00000384675.2:p.Cys441Tyr
ENST00000395038.6:c.1322G>A	ENSP00000378479.2:p.Cys441Tyr
ENST00000402219.6:c.1322G>A	ENSP00000384675.2:p.Cys441Tyr
ENST00000426016.5:c.1322G>A	ENSP00000387784.1:p.Cys441Tyr
ENST00000472480.1:n.166G>A
NM_005633.3:c.1322G>A , LRG_754t1:c.1322G>A	NP_005624.2:p.Cys441Tyr
XM_005264515.3:c.1322G>A	XP_005264572.1:p.Cys441Tyr
XM_011533060.1:c.1415G>A	XP_011531362.1:p.Cys472Tyr
XM_011533061.1:c.1415G>A	XP_011531363.1:p.Cys472Tyr
XM_011533062.1:c.1301G>A	XP_011531364.1:p.Cys434Tyr
XM_011533063.1:c.1298G>A	XP_011531365.1:p.Cys433Tyr
XM_011533064.1:c.1151G>A	XP_011531366.1:p.Cys384Tyr
XM_011533065.1:c.1415G>A	XP_011531367.1:p.Cys472Tyr
XM_011533066.1:c.257G>A	XP_011531368.1:p.Cys86Tyr
XM_005264515.4:c.1322G>A	XP_005264572.1:p.Cys441Tyr
XM_011533062.2:c.1301G>A	XP_011531364.1:p.Cys434Tyr
XM_011533064.2:c.1151G>A	XP_011531366.1:p.Cys384Tyr
NM_001382394.1:c.1301G>A	NP_001369323.1:p.Cys434Tyr
NM_001382395.1:c.1322G>A	NP_001369324.1:p.Cys441Tyr
NM_005633.4:c.1322G>A MANE Select	NP_005624.2:p.Cys441Tyr