Canonical Allele Identifier: CA297196

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40734
• ClinVar RCV Id: RCV000159118 ; RCV001813302 ; RCV000231740 ; RCV001703448 ; RCV002345265
• dbSNP Id: rs730881026
• ExAC: 2:39213238 G / C
• gnomAD v2: 2-39213238-G-C
• gnomAD v3: 2-38986097-G-C
• gnomAD v4: 2-38986097-G-C
• MyVariant Identifiers: chr2:g.39213238G>C (hg19) ; chr2:g.38986097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986097G>C , CM000664.2:g.38986097G>C	GRCh38
NC_000002.11:g.39213238G>C , CM000664.1:g.39213238G>C	GRCh37
NC_000002.10:g.39066742G>C	NCBI36
NG_007530.1:g.139367C>G , LRG_754:g.139367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2496C>G	ENSP00000509424.1:p.Asp832Glu
ENST00000686849.1:n.520C>G
ENST00000690876.1:c.*1035C>G	ENSP00000508955.1:n.*1035C>G
ENST00000692089.1:c.3399+1376C>G	ENSP00000508626.1:n.3399+1376C>G
ENST00000692227.1:c.1162-734C>G	ENSP00000509138.1:n.1162-734C>G
ENST00000402219.8:c.3729C>G MANE Select	ENSP00000384675.2:p.Asp1243Glu
ENST00000395038.6:c.3684C>G	ENSP00000378479.2:p.Asp1228Glu
ENST00000402219.6:c.3729C>G	ENSP00000384675.2:p.Asp1243Glu
ENST00000426016.5:c.3729C>G	ENSP00000387784.1:p.Asp1243Glu
ENST00000469581.1:n.472C>G
NM_005633.3:c.3729C>G , LRG_754t1:c.3729C>G	NP_005624.2:p.Asp1243Glu
XM_005264515.3:c.3684C>G	XP_005264572.1:p.Asp1228Glu
XM_011533060.1:c.3822C>G	XP_011531362.1:p.Asp1274Glu
XM_011533061.1:c.3777C>G	XP_011531363.1:p.Asp1259Glu
XM_011533062.1:c.3708C>G	XP_011531364.1:p.Asp1236Glu
XM_011533063.1:c.3705C>G	XP_011531365.1:p.Asp1235Glu
XM_011533064.1:c.3558C>G	XP_011531366.1:p.Asp1186Glu
XM_011533065.1:c.3604-734C>G	XP_011531367.1:n.3604-734C>G
XM_011533066.1:c.2664C>G	XP_011531368.1:p.Asp888Glu
XM_005264515.4:c.3684C>G	XP_005264572.1:p.Asp1228Glu
XM_011533062.2:c.3708C>G	XP_011531364.1:p.Asp1236Glu
XM_011533064.2:c.3558C>G	XP_011531366.1:p.Asp1186Glu
NM_001382394.1:c.3708C>G	NP_001369323.1:p.Asp1236Glu
NM_001382395.1:c.3684C>G	NP_001369324.1:p.Asp1228Glu
NM_005633.4:c.3729C>G MANE Select	NP_005624.2:p.Asp1243Glu