Canonical Allele Identifier: CA10602856

Gene: SOS1

Linked Data

• ClinVar Variation Id: 280339
• ClinVar RCV Id: RCV000303886 ; RCV001064842 ; RCV002467703 ; RCV002467704
• dbSNP Id: rs886041565
• gnomAD v2: 2-39213146-G-C
• gnomAD v4: 2-38986005-G-C
• MyVariant Identifiers: chr2:g.39213146G>C (hg19) ; chr2:g.38986005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986005G>C , CM000664.2:g.38986005G>C	GRCh38
NC_000002.11:g.39213146G>C , CM000664.1:g.39213146G>C	GRCh37
NC_000002.10:g.39066650G>C	NCBI36
NG_007530.1:g.139459C>G , LRG_754:g.139459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2588C>G	ENSP00000509424.1:p.Pro863Arg
ENST00000686849.1:n.612C>G
ENST00000690876.1:c.*1127C>G	ENSP00000508955.1:n.*1127C>G
ENST00000692089.1:c.3399+1468C>G	ENSP00000508626.1:n.3399+1468C>G
ENST00000692227.1:c.1162-642C>G	ENSP00000509138.1:n.1162-642C>G
ENST00000402219.8:c.3821C>G MANE Select	ENSP00000384675.2:p.Pro1274Arg
ENST00000395038.6:c.3776C>G	ENSP00000378479.2:p.Pro1259Arg
ENST00000402219.6:c.3821C>G	ENSP00000384675.2:p.Pro1274Arg
ENST00000426016.5:c.3821C>G	ENSP00000387784.1:p.Pro1274Arg
NM_005633.3:c.3821C>G , LRG_754t1:c.3821C>G	NP_005624.2:p.Pro1274Arg
XM_005264515.3:c.3776C>G	XP_005264572.1:p.Pro1259Arg
XM_011533060.1:c.3914C>G	XP_011531362.1:p.Pro1305Arg
XM_011533061.1:c.3869C>G	XP_011531363.1:p.Pro1290Arg
XM_011533062.1:c.3800C>G	XP_011531364.1:p.Pro1267Arg
XM_011533063.1:c.3797C>G	XP_011531365.1:p.Pro1266Arg
XM_011533064.1:c.3650C>G	XP_011531366.1:p.Pro1217Arg
XM_011533065.1:c.3604-642C>G	XP_011531367.1:n.3604-642C>G
XM_011533066.1:c.2756C>G	XP_011531368.1:p.Pro919Arg
XM_005264515.4:c.3776C>G	XP_005264572.1:p.Pro1259Arg
XM_011533062.2:c.3800C>G	XP_011531364.1:p.Pro1267Arg
XM_011533064.2:c.3650C>G	XP_011531366.1:p.Pro1217Arg
NM_001382394.1:c.3800C>G	NP_001369323.1:p.Pro1267Arg
NM_001382395.1:c.3776C>G	NP_001369324.1:p.Pro1259Arg
NM_005633.4:c.3821C>G MANE Select	NP_005624.2:p.Pro1274Arg