Canonical Allele Identifier: CA346364226

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2190991
• ClinVar RCV Id: RCV002628352
• dbSNP Id: rs770225695
• gnomAD v2: 2-39239375-A-G
• gnomAD v4: 2-39012234-A-G
• MyVariant Identifiers: chr2:g.39239375A>G (hg19) ; chr2:g.39012234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012234A>G , CM000664.2:g.39012234A>G	GRCh38
NC_000002.11:g.39239375A>G , CM000664.1:g.39239375A>G	GRCh37
NC_000002.10:g.39092879A>G	NCBI36
NG_007530.1:g.113230T>C , LRG_754:g.113230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1049T>C	ENSP00000509424.1:p.Val350Ala
ENST00000688043.1:n.3614T>C
ENST00000689668.1:n.2289T>C
ENST00000690514.1:n.371T>C
ENST00000690876.1:c.2171T>C	ENSP00000508955.1:p.Val724Ala
ENST00000691229.1:c.2171T>C	ENSP00000510437.1:p.Val724Ala
ENST00000692089.1:c.2171T>C	ENSP00000508626.1:p.Val724Ala
ENST00000692620.1:c.934+1226T>C	ENSP00000509311.1:n.934+1226T>C
ENST00000402219.8:c.2282T>C MANE Select	ENSP00000384675.2:p.Val761Ala
ENST00000395038.6:c.2282T>C	ENSP00000378479.2:p.Val761Ala
ENST00000402219.6:c.2282T>C	ENSP00000384675.2:p.Val761Ala
ENST00000426016.5:c.2282T>C	ENSP00000387784.1:p.Val761Ala
NM_005633.3:c.2282T>C , LRG_754t1:c.2282T>C	NP_005624.2:p.Val761Ala
XM_005264515.3:c.2282T>C	XP_005264572.1:p.Val761Ala
XM_011533060.1:c.2375T>C	XP_011531362.1:p.Val792Ala
XM_011533061.1:c.2375T>C	XP_011531363.1:p.Val792Ala
XM_011533062.1:c.2261T>C	XP_011531364.1:p.Val754Ala
XM_011533063.1:c.2258T>C	XP_011531365.1:p.Val753Ala
XM_011533064.1:c.2111T>C	XP_011531366.1:p.Val704Ala
XM_011533065.1:c.2375T>C	XP_011531367.1:p.Val792Ala
XM_011533066.1:c.1217T>C	XP_011531368.1:p.Val406Ala
XM_005264515.4:c.2282T>C	XP_005264572.1:p.Val761Ala
XM_011533062.2:c.2261T>C	XP_011531364.1:p.Val754Ala
XM_011533064.2:c.2111T>C	XP_011531366.1:p.Val704Ala
NM_001382394.1:c.2261T>C	NP_001369323.1:p.Val754Ala
NM_001382395.1:c.2282T>C	NP_001369324.1:p.Val761Ala
NM_005633.4:c.2282T>C MANE Select	NP_005624.2:p.Val761Ala