Canonical Allele Identifier: CA346362449

Gene: SOS1

Linked Data

• ClinVar Variation Id: 496306
• ClinVar RCV Id: RCV000587660 ; RCV001867910 ; RCV002467909 ; RCV002467910
• dbSNP Id: rs1293079271
• gnomAD v2: 2-39213243-T-C
• gnomAD v3: 2-38986102-T-C
• gnomAD v4: 2-38986102-T-C
• MyVariant Identifiers: chr2:g.39213243T>C (hg19) ; chr2:g.38986102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986102T>C , CM000664.2:g.38986102T>C	GRCh38
NC_000002.11:g.39213243T>C , CM000664.1:g.39213243T>C	GRCh37
NC_000002.10:g.39066747T>C	NCBI36
NG_007530.1:g.139362A>G , LRG_754:g.139362A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2491A>G	ENSP00000509424.1:p.Ser831Gly
ENST00000686849.1:n.515A>G
ENST00000690876.1:c.*1030A>G	ENSP00000508955.1:n.*1030A>G
ENST00000692089.1:c.3399+1371A>G	ENSP00000508626.1:n.3399+1371A>G
ENST00000692227.1:c.1162-739A>G	ENSP00000509138.1:n.1162-739A>G
ENST00000402219.8:c.3724A>G MANE Select	ENSP00000384675.2:p.Ser1242Gly
ENST00000395038.6:c.3679A>G	ENSP00000378479.2:p.Ser1227Gly
ENST00000402219.6:c.3724A>G	ENSP00000384675.2:p.Ser1242Gly
ENST00000426016.5:c.3724A>G	ENSP00000387784.1:p.Ser1242Gly
ENST00000469581.1:n.467A>G
NM_005633.3:c.3724A>G , LRG_754t1:c.3724A>G	NP_005624.2:p.Ser1242Gly
XM_005264515.3:c.3679A>G	XP_005264572.1:p.Ser1227Gly
XM_011533060.1:c.3817A>G	XP_011531362.1:p.Ser1273Gly
XM_011533061.1:c.3772A>G	XP_011531363.1:p.Ser1258Gly
XM_011533062.1:c.3703A>G	XP_011531364.1:p.Ser1235Gly
XM_011533063.1:c.3700A>G	XP_011531365.1:p.Ser1234Gly
XM_011533064.1:c.3553A>G	XP_011531366.1:p.Ser1185Gly
XM_011533065.1:c.3604-739A>G	XP_011531367.1:n.3604-739A>G
XM_011533066.1:c.2659A>G	XP_011531368.1:p.Ser887Gly
XM_005264515.4:c.3679A>G	XP_005264572.1:p.Ser1227Gly
XM_011533062.2:c.3703A>G	XP_011531364.1:p.Ser1235Gly
XM_011533064.2:c.3553A>G	XP_011531366.1:p.Ser1185Gly
NM_001382394.1:c.3703A>G	NP_001369323.1:p.Ser1235Gly
NM_001382395.1:c.3679A>G	NP_001369324.1:p.Ser1227Gly
NM_005633.4:c.3724A>G MANE Select	NP_005624.2:p.Ser1242Gly