Canonical Allele Identifier: CA1624594

Gene: SOS1

Linked Data

• ClinVar Variation Id: 385157
• ClinVar RCV Id: RCV000420703 ; RCV002062755 ; RCV002392996 ; RCV002467788 ; RCV002467789 ; RCV003902559
• dbSNP Id: rs542368621
• ExAC: 2:39250080 G / T
• gnomAD v2: 2-39250080-G-T
• gnomAD v3: 2-39022939-G-T
• gnomAD v4: 2-39022939-G-T
• MyVariant Identifiers: chr2:g.39250080G>T (hg19) ; chr2:g.39022939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022939G>T , CM000664.2:g.39022939G>T	GRCh38
NC_000002.11:g.39250080G>T , CM000664.1:g.39250080G>T	GRCh37
NC_000002.10:g.39103584G>T	NCBI36
NG_007530.1:g.102525C>A , LRG_754:g.102525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1369C>A
ENST00000685279.1:c.256C>A	ENSP00000509424.1:p.Arg86=
ENST00000688043.1:n.1710C>A
ENST00000689668.1:n.1496C>A
ENST00000690876.1:c.1378C>A	ENSP00000508955.1:p.Arg460=
ENST00000691229.1:c.1378C>A	ENSP00000510437.1:p.Arg460=
ENST00000692089.1:c.1378C>A	ENSP00000508626.1:p.Arg460=
ENST00000692620.1:c.256C>A	ENSP00000509311.1:p.Arg86=
ENST00000402219.8:c.1489C>A MANE Select	ENSP00000384675.2:p.Arg497=
ENST00000395038.6:c.1489C>A	ENSP00000378479.2:p.Arg497=
ENST00000402219.6:c.1489C>A	ENSP00000384675.2:p.Arg497=
ENST00000426016.5:c.1489C>A	ENSP00000387784.1:p.Arg497=
ENST00000472480.1:n.333C>A
NM_005633.3:c.1489C>A , LRG_754t1:c.1489C>A	NP_005624.2:p.Arg497=
XM_005264515.3:c.1489C>A	XP_005264572.1:p.Arg497=
XM_011533060.1:c.1582C>A	XP_011531362.1:p.Arg528=
XM_011533061.1:c.1582C>A	XP_011531363.1:p.Arg528=
XM_011533062.1:c.1468C>A	XP_011531364.1:p.Arg490=
XM_011533063.1:c.1465C>A	XP_011531365.1:p.Arg489=
XM_011533064.1:c.1318C>A	XP_011531366.1:p.Arg440=
XM_011533065.1:c.1582C>A	XP_011531367.1:p.Arg528=
XM_011533066.1:c.424C>A	XP_011531368.1:p.Arg142=
XM_005264515.4:c.1489C>A	XP_005264572.1:p.Arg497=
XM_011533062.2:c.1468C>A	XP_011531364.1:p.Arg490=
XM_011533064.2:c.1318C>A	XP_011531366.1:p.Arg440=
NM_001382394.1:c.1468C>A	NP_001369323.1:p.Arg490=
NM_001382395.1:c.1489C>A	NP_001369324.1:p.Arg497=
NM_005633.4:c.1489C>A MANE Select	NP_005624.2:p.Arg497=