Canonical Allele Identifier: CA346364460

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39239478T>C (hg19) ; chr2:g.39012337T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012337T>C , CM000664.2:g.39012337T>C	GRCh38
NC_000002.11:g.39239478T>C , CM000664.1:g.39239478T>C	GRCh37
NC_000002.10:g.39092982T>C	NCBI36
NG_007530.1:g.113127A>G , LRG_754:g.113127A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.946A>G	ENSP00000509424.1:p.Lys316Glu
ENST00000688043.1:n.3511A>G
ENST00000689668.1:n.2186A>G
ENST00000690514.1:n.268A>G
ENST00000690876.1:c.2068A>G	ENSP00000508955.1:p.Lys690Glu
ENST00000691229.1:c.2068A>G	ENSP00000510437.1:p.Lys690Glu
ENST00000692089.1:c.2068A>G	ENSP00000508626.1:p.Lys690Glu
ENST00000692620.1:c.934+1123A>G	ENSP00000509311.1:n.934+1123A>G
ENST00000402219.8:c.2179A>G MANE Select	ENSP00000384675.2:p.Lys727Glu
ENST00000395038.6:c.2179A>G	ENSP00000378479.2:p.Lys727Glu
ENST00000402219.6:c.2179A>G	ENSP00000384675.2:p.Lys727Glu
ENST00000426016.5:c.2179A>G	ENSP00000387784.1:p.Lys727Glu
NM_005633.3:c.2179A>G , LRG_754t1:c.2179A>G	NP_005624.2:p.Lys727Glu
XM_005264515.3:c.2179A>G	XP_005264572.1:p.Lys727Glu
XM_011533060.1:c.2272A>G	XP_011531362.1:p.Lys758Glu
XM_011533061.1:c.2272A>G	XP_011531363.1:p.Lys758Glu
XM_011533062.1:c.2158A>G	XP_011531364.1:p.Lys720Glu
XM_011533063.1:c.2155A>G	XP_011531365.1:p.Lys719Glu
XM_011533064.1:c.2008A>G	XP_011531366.1:p.Lys670Glu
XM_011533065.1:c.2272A>G	XP_011531367.1:p.Lys758Glu
XM_011533066.1:c.1114A>G	XP_011531368.1:p.Lys372Glu
XM_005264515.4:c.2179A>G	XP_005264572.1:p.Lys727Glu
XM_011533062.2:c.2158A>G	XP_011531364.1:p.Lys720Glu
XM_011533064.2:c.2008A>G	XP_011531366.1:p.Lys670Glu
NM_001382394.1:c.2158A>G	NP_001369323.1:p.Lys720Glu
NM_001382395.1:c.2179A>G	NP_001369324.1:p.Lys727Glu
NM_005633.4:c.2179A>G MANE Select	NP_005624.2:p.Lys727Glu