Canonical Allele Identifier: CA346677

Gene: SOS1

Linked Data

• ClinVar Variation Id: 180531
• ClinVar RCV Id: RCV000157508
• dbSNP Id: rs730880218
• ExAC: 2:39250217 G / T
• gnomAD v2: 2-39250217-G-T
• gnomAD v4: 2-39023076-G-T
• MyVariant Identifiers: chr2:g.39250217G>T (hg19) ; chr2:g.39023076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023076G>T , CM000664.2:g.39023076G>T	GRCh38
NC_000002.11:g.39250217G>T , CM000664.1:g.39250217G>T	GRCh37
NC_000002.10:g.39103721G>T	NCBI36
NG_007530.1:g.102388C>A , LRG_754:g.102388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1232C>A
ENST00000685279.1:c.119C>A	ENSP00000509424.1:p.Thr40Lys
ENST00000688043.1:n.1573C>A
ENST00000689668.1:n.1359C>A
ENST00000690876.1:c.1241C>A	ENSP00000508955.1:p.Thr414Lys
ENST00000691229.1:c.1241C>A	ENSP00000510437.1:p.Thr414Lys
ENST00000692089.1:c.1241C>A	ENSP00000508626.1:p.Thr414Lys
ENST00000692620.1:c.119C>A	ENSP00000509311.1:p.Thr40Lys
ENST00000402219.8:c.1352C>A MANE Select	ENSP00000384675.2:p.Thr451Lys
ENST00000395038.6:c.1352C>A	ENSP00000378479.2:p.Thr451Lys
ENST00000402219.6:c.1352C>A	ENSP00000384675.2:p.Thr451Lys
ENST00000426016.5:c.1352C>A	ENSP00000387784.1:p.Thr451Lys
ENST00000472480.1:n.196C>A
NM_005633.3:c.1352C>A , LRG_754t1:c.1352C>A	NP_005624.2:p.Thr451Lys
XM_005264515.3:c.1352C>A	XP_005264572.1:p.Thr451Lys
XM_011533060.1:c.1445C>A	XP_011531362.1:p.Thr482Lys
XM_011533061.1:c.1445C>A	XP_011531363.1:p.Thr482Lys
XM_011533062.1:c.1331C>A	XP_011531364.1:p.Thr444Lys
XM_011533063.1:c.1328C>A	XP_011531365.1:p.Thr443Lys
XM_011533064.1:c.1181C>A	XP_011531366.1:p.Thr394Lys
XM_011533065.1:c.1445C>A	XP_011531367.1:p.Thr482Lys
XM_011533066.1:c.287C>A	XP_011531368.1:p.Thr96Lys
XM_005264515.4:c.1352C>A	XP_005264572.1:p.Thr451Lys
XM_011533062.2:c.1331C>A	XP_011531364.1:p.Thr444Lys
XM_011533064.2:c.1181C>A	XP_011531366.1:p.Thr394Lys
NM_001382394.1:c.1331C>A	NP_001369323.1:p.Thr444Lys
NM_001382395.1:c.1352C>A	NP_001369324.1:p.Thr451Lys
NM_005633.4:c.1352C>A MANE Select	NP_005624.2:p.Thr451Lys