Canonical Allele Identifier: CA261726

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40683
• ClinVar RCV Id: RCV000157017 ; RCV000159175 ; RCV000587705 ; RCV000856745 ; RCV001062868 ; RCV001169984 ; RCV001335308
• dbSNP Id: rs397517154
• gnomAD v4: 2-39022773-C-T
• COSMIC: COSM166809
• MyVariant Identifiers: chr2:g.39249914C>T (hg19) ; chr2:g.39022773C>T (hg38)
• ERepo: CA261726/MONDO:0018997/004
• PubMed: PMID:17143282 ; PMID:17143285 ; PMID:17586837 ; PMID:19352411 ; PMID:21387466 ; PMID:21784453

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022773C>T , CM000664.2:g.39022773C>T	GRCh38
NC_000002.11:g.39249914C>T , CM000664.1:g.39249914C>T	GRCh37
NC_000002.10:g.39103418C>T	NCBI36
NG_007530.1:g.102691G>A , LRG_754:g.102691G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1535G>A
ENST00000685279.1:c.422G>A	ENSP00000509424.1:p.Arg141Lys
ENST00000688043.1:n.1876G>A
ENST00000689668.1:n.1662G>A
ENST00000690876.1:c.1544G>A	ENSP00000508955.1:p.Arg515Lys
ENST00000691229.1:c.1544G>A	ENSP00000510437.1:p.Arg515Lys
ENST00000692089.1:c.1544G>A	ENSP00000508626.1:p.Arg515Lys
ENST00000692620.1:c.422G>A	ENSP00000509311.1:p.Arg141Lys
ENST00000402219.8:c.1655G>A MANE Select	ENSP00000384675.2:p.Arg552Lys
ENST00000395038.6:c.1655G>A	ENSP00000378479.2:p.Arg552Lys
ENST00000402219.6:c.1655G>A	ENSP00000384675.2:p.Arg552Lys
ENST00000426016.5:c.1655G>A	ENSP00000387784.1:p.Arg552Lys
NM_005633.3:c.1655G>A , LRG_754t1:c.1655G>A	NP_005624.2:p.Arg552Lys
XM_005264515.3:c.1655G>A	XP_005264572.1:p.Arg552Lys
XM_011533060.1:c.1748G>A	XP_011531362.1:p.Arg583Lys
XM_011533061.1:c.1748G>A	XP_011531363.1:p.Arg583Lys
XM_011533062.1:c.1634G>A	XP_011531364.1:p.Arg545Lys
XM_011533063.1:c.1631G>A	XP_011531365.1:p.Arg544Lys
XM_011533064.1:c.1484G>A	XP_011531366.1:p.Arg495Lys
XM_011533065.1:c.1748G>A	XP_011531367.1:p.Arg583Lys
XM_011533066.1:c.590G>A	XP_011531368.1:p.Arg197Lys
XM_005264515.4:c.1655G>A	XP_005264572.1:p.Arg552Lys
XM_011533062.2:c.1634G>A	XP_011531364.1:p.Arg545Lys
XM_011533064.2:c.1484G>A	XP_011531366.1:p.Arg495Lys
NM_001382394.1:c.1634G>A	NP_001369323.1:p.Arg545Lys
NM_001382395.1:c.1655G>A	NP_001369324.1:p.Arg552Lys
NM_005633.4:c.1655G>A MANE Select	NP_005624.2:p.Arg552Lys