Canonical Allele Identifier: CA346373052

Gene: SOS1

Linked Data

• ClinVar Variation Id: 1708841
• ClinVar RCV Id: RCV002288125
• MyVariant Identifiers: chr2:g.39281824C>A (hg19) ; chr2:g.39054683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054683C>A , CM000664.2:g.39054683C>A	GRCh38
NC_000002.11:g.39281824C>A , CM000664.1:g.39281824C>A	GRCh37
NC_000002.10:g.39135328C>A	NCBI36
NG_007530.1:g.70781G>T , LRG_754:g.70781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.678G>T
ENST00000685782.1:n.1489G>T
ENST00000688189.1:n.416G>T
ENST00000689668.1:n.658G>T
ENST00000690679.1:c.751G>T
ENST00000690876.1:c.651G>T	ENSP00000508955.1:p.Arg217Ser
ENST00000691229.1:c.651G>T	ENSP00000510437.1:p.Arg217Ser
ENST00000692089.1:c.651G>T	ENSP00000508626.1:p.Arg217Ser
ENST00000402219.8:c.651G>T MANE Select	ENSP00000384675.2:p.Arg217Ser
ENST00000395038.6:c.651G>T	ENSP00000378479.2:p.Arg217Ser
ENST00000402219.6:c.651G>T	ENSP00000384675.2:p.Arg217Ser
ENST00000426016.5:c.651G>T	ENSP00000387784.1:p.Arg217Ser
NM_005633.3:c.651G>T , LRG_754t1:c.651G>T	NP_005624.2:p.Arg217Ser
XM_005264515.3:c.651G>T	XP_005264572.1:p.Arg217Ser
XM_011533060.1:c.744G>T	XP_011531362.1:p.Arg248Ser
XM_011533061.1:c.744G>T	XP_011531363.1:p.Arg248Ser
XM_011533062.1:c.630G>T	XP_011531364.1:p.Arg210Ser
XM_011533063.1:c.627G>T	XP_011531365.1:p.Arg209Ser
XM_011533064.1:c.480G>T	XP_011531366.1:p.Arg160Ser
XM_011533065.1:c.744G>T	XP_011531367.1:p.Arg248Ser
XM_005264515.4:c.651G>T	XP_005264572.1:p.Arg217Ser
XM_011533062.2:c.630G>T	XP_011531364.1:p.Arg210Ser
XM_011533064.2:c.480G>T	XP_011531366.1:p.Arg160Ser
NM_001382394.1:c.630G>T	NP_001369323.1:p.Arg210Ser
NM_001382395.1:c.651G>T	NP_001369324.1:p.Arg217Ser
NM_005633.4:c.651G>T MANE Select	NP_005624.2:p.Arg217Ser