Canonical Allele Identifier: CA185039

Gene: SOS1

Linked Data

• ClinVar Variation Id: 179739
• ClinVar RCV Id: RCV000156537 ; RCV000414349 ; RCV000770761 ; RCV000793245
• dbSNP Id: rs727505093
• MyVariant Identifiers: chr2:g.39241979A>C (hg19) ; chr2:g.39014838A>C (hg38)
• PubMed: PMID:11333268 ; PMID:17586837 ; PMID:20673819 ; PMID:24803665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39014838A>C , CM000664.2:g.39014838A>C	GRCh38
NC_000002.11:g.39241979A>C , CM000664.1:g.39241979A>C	GRCh37
NC_000002.10:g.39095483A>C	NCBI36
NG_007530.1:g.110626T>G , LRG_754:g.110626T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.634T>G	ENSP00000509424.1:p.Phe212Val
ENST00000688043.1:n.2088T>G
ENST00000689668.1:n.1874T>G
ENST00000690876.1:c.1756T>G	ENSP00000508955.1:p.Phe586Val
ENST00000691229.1:c.1756T>G	ENSP00000510437.1:p.Phe586Val
ENST00000692089.1:c.1756T>G	ENSP00000508626.1:p.Phe586Val
ENST00000692620.1:c.634T>G	ENSP00000509311.1:p.Phe212Val
ENST00000402219.8:c.1867T>G MANE Select	ENSP00000384675.2:p.Phe623Val
ENST00000395038.6:c.1867T>G	ENSP00000378479.2:p.Phe623Val
ENST00000402219.6:c.1867T>G	ENSP00000384675.2:p.Phe623Val
ENST00000426016.5:c.1867T>G	ENSP00000387784.1:p.Phe623Val
NM_005633.3:c.1867T>G , LRG_754t1:c.1867T>G	NP_005624.2:p.Phe623Val
XM_005264515.3:c.1867T>G	XP_005264572.1:p.Phe623Val
XM_011533060.1:c.1960T>G	XP_011531362.1:p.Phe654Val
XM_011533061.1:c.1960T>G	XP_011531363.1:p.Phe654Val
XM_011533062.1:c.1846T>G	XP_011531364.1:p.Phe616Val
XM_011533063.1:c.1843T>G	XP_011531365.1:p.Phe615Val
XM_011533064.1:c.1696T>G	XP_011531366.1:p.Phe566Val
XM_011533065.1:c.1960T>G	XP_011531367.1:p.Phe654Val
XM_011533066.1:c.802T>G	XP_011531368.1:p.Phe268Val
XM_005264515.4:c.1867T>G	XP_005264572.1:p.Phe623Val
XM_011533062.2:c.1846T>G	XP_011531364.1:p.Phe616Val
XM_011533064.2:c.1696T>G	XP_011531366.1:p.Phe566Val
NM_001382394.1:c.1846T>G	NP_001369323.1:p.Phe616Val
NM_001382395.1:c.1867T>G	NP_001369324.1:p.Phe623Val
NM_005633.4:c.1867T>G MANE Select	NP_005624.2:p.Phe623Val