Canonical Allele Identifier: CA297272

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40679
• ClinVar RCV Id: RCV000159171 ; RCV001261087 ; RCV001381689 ; RCV002467514
• dbSNP Id: rs730881045
• MyVariant Identifiers: chr2:g.39249925A>T (hg19) ; chr2:g.39022784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022784A>T , CM000664.2:g.39022784A>T	GRCh38
NC_000002.11:g.39249925A>T , CM000664.1:g.39249925A>T	GRCh37
NC_000002.10:g.39103429A>T	NCBI36
NG_007530.1:g.102680T>A , LRG_754:g.102680T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1524T>A
ENST00000685279.1:c.411T>A	ENSP00000509424.1:p.Ser137Arg
ENST00000688043.1:n.1865T>A
ENST00000689668.1:n.1651T>A
ENST00000690876.1:c.1533T>A	ENSP00000508955.1:p.Ser511Arg
ENST00000691229.1:c.1533T>A	ENSP00000510437.1:p.Ser511Arg
ENST00000692089.1:c.1533T>A	ENSP00000508626.1:p.Ser511Arg
ENST00000692620.1:c.411T>A	ENSP00000509311.1:p.Ser137Arg
ENST00000402219.8:c.1644T>A MANE Select	ENSP00000384675.2:p.Ser548Arg
ENST00000395038.6:c.1644T>A	ENSP00000378479.2:p.Ser548Arg
ENST00000402219.6:c.1644T>A	ENSP00000384675.2:p.Ser548Arg
ENST00000426016.5:c.1644T>A	ENSP00000387784.1:p.Ser548Arg
NM_005633.3:c.1644T>A , LRG_754t1:c.1644T>A	NP_005624.2:p.Ser548Arg
XM_005264515.3:c.1644T>A	XP_005264572.1:p.Ser548Arg
XM_011533060.1:c.1737T>A	XP_011531362.1:p.Ser579Arg
XM_011533061.1:c.1737T>A	XP_011531363.1:p.Ser579Arg
XM_011533062.1:c.1623T>A	XP_011531364.1:p.Ser541Arg
XM_011533063.1:c.1620T>A	XP_011531365.1:p.Ser540Arg
XM_011533064.1:c.1473T>A	XP_011531366.1:p.Ser491Arg
XM_011533065.1:c.1737T>A	XP_011531367.1:p.Ser579Arg
XM_011533066.1:c.579T>A	XP_011531368.1:p.Ser193Arg
XM_005264515.4:c.1644T>A	XP_005264572.1:p.Ser548Arg
XM_011533062.2:c.1623T>A	XP_011531364.1:p.Ser541Arg
XM_011533064.2:c.1473T>A	XP_011531366.1:p.Ser491Arg
NM_001382394.1:c.1623T>A	NP_001369323.1:p.Ser541Arg
NM_001382395.1:c.1644T>A	NP_001369324.1:p.Ser548Arg
NM_005633.4:c.1644T>A MANE Select	NP_005624.2:p.Ser548Arg