Canonical Allele Identifier: CA346366005

Gene: SOS1

Linked Data

• ClinVar Variation Id: 1360145
• ClinVar RCV Id: RCV001864891
• dbSNP Id: rs2124537140
• MyVariant Identifiers: chr2:g.39250058T>G (hg19) ; chr2:g.39022917T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022917T>G , CM000664.2:g.39022917T>G	GRCh38
NC_000002.11:g.39250058T>G , CM000664.1:g.39250058T>G	GRCh37
NC_000002.10:g.39103562T>G	NCBI36
NG_007530.1:g.102547A>C , LRG_754:g.102547A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1391A>C
ENST00000685279.1:c.278A>C	ENSP00000509424.1:p.Lys93Thr
ENST00000688043.1:n.1732A>C
ENST00000689668.1:n.1518A>C
ENST00000690876.1:c.1400A>C	ENSP00000508955.1:p.Lys467Thr
ENST00000691229.1:c.1400A>C	ENSP00000510437.1:p.Lys467Thr
ENST00000692089.1:c.1400A>C	ENSP00000508626.1:p.Lys467Thr
ENST00000692620.1:c.278A>C	ENSP00000509311.1:p.Lys93Thr
ENST00000402219.8:c.1511A>C MANE Select	ENSP00000384675.2:p.Lys504Thr
ENST00000395038.6:c.1511A>C	ENSP00000378479.2:p.Lys504Thr
ENST00000402219.6:c.1511A>C	ENSP00000384675.2:p.Lys504Thr
ENST00000426016.5:c.1511A>C	ENSP00000387784.1:p.Lys504Thr
ENST00000472480.1:n.355A>C
NM_005633.3:c.1511A>C , LRG_754t1:c.1511A>C	NP_005624.2:p.Lys504Thr
XM_005264515.3:c.1511A>C	XP_005264572.1:p.Lys504Thr
XM_011533060.1:c.1604A>C	XP_011531362.1:p.Lys535Thr
XM_011533061.1:c.1604A>C	XP_011531363.1:p.Lys535Thr
XM_011533062.1:c.1490A>C	XP_011531364.1:p.Lys497Thr
XM_011533063.1:c.1487A>C	XP_011531365.1:p.Lys496Thr
XM_011533064.1:c.1340A>C	XP_011531366.1:p.Lys447Thr
XM_011533065.1:c.1604A>C	XP_011531367.1:p.Lys535Thr
XM_011533066.1:c.446A>C	XP_011531368.1:p.Lys149Thr
XM_005264515.4:c.1511A>C	XP_005264572.1:p.Lys504Thr
XM_011533062.2:c.1490A>C	XP_011531364.1:p.Lys497Thr
XM_011533064.2:c.1340A>C	XP_011531366.1:p.Lys447Thr
NM_001382394.1:c.1490A>C	NP_001369323.1:p.Lys497Thr
NM_001382395.1:c.1511A>C	NP_001369324.1:p.Lys504Thr
NM_005633.4:c.1511A>C MANE Select	NP_005624.2:p.Lys504Thr