Canonical Allele Identifier: CA297237

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40732
• ClinVar RCV Id: RCV002453288 ; RCV002467527 ; RCV000589150 ; RCV001230717 ; RCV002477050 ; RCV002467528
• dbSNP Id: rs730881035
• gnomAD v2: 2-39213443-T-G
• gnomAD v3: 2-38986302-T-G
• gnomAD v4: 2-38986302-T-G
• MyVariant Identifiers: chr2:g.39213443T>G (hg19) ; chr2:g.38986302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986302T>G , CM000664.2:g.38986302T>G	GRCh38
NC_000002.11:g.39213443T>G , CM000664.1:g.39213443T>G	GRCh37
NC_000002.10:g.39066947T>G	NCBI36
NG_007530.1:g.139162A>C , LRG_754:g.139162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2291A>C	ENSP00000509424.1:p.His764Pro
ENST00000686849.1:n.315A>C
ENST00000690876.1:c.*830A>C	ENSP00000508955.1:n.*830A>C
ENST00000692089.1:c.3399+1171A>C	ENSP00000508626.1:n.3399+1171A>C
ENST00000692227.1:c.1162-939A>C	ENSP00000509138.1:n.1162-939A>C
ENST00000402219.8:c.3524A>C MANE Select	ENSP00000384675.2:p.His1175Pro
ENST00000395038.6:c.3479A>C	ENSP00000378479.2:p.His1160Pro
ENST00000402219.6:c.3524A>C	ENSP00000384675.2:p.His1175Pro
ENST00000426016.5:c.3524A>C	ENSP00000387784.1:p.His1175Pro
ENST00000469581.1:n.267A>C
NM_005633.3:c.3524A>C , LRG_754t1:c.3524A>C	NP_005624.2:p.His1175Pro
XM_005264515.3:c.3479A>C	XP_005264572.1:p.His1160Pro
XM_011533060.1:c.3617A>C	XP_011531362.1:p.His1206Pro
XM_011533061.1:c.3572A>C	XP_011531363.1:p.His1191Pro
XM_011533062.1:c.3503A>C	XP_011531364.1:p.His1168Pro
XM_011533063.1:c.3500A>C	XP_011531365.1:p.His1167Pro
XM_011533064.1:c.3353A>C	XP_011531366.1:p.His1118Pro
XM_011533065.1:c.3604-939A>C	XP_011531367.1:n.3604-939A>C
XM_011533066.1:c.2459A>C	XP_011531368.1:p.His820Pro
XM_005264515.4:c.3479A>C	XP_005264572.1:p.His1160Pro
XM_011533062.2:c.3503A>C	XP_011531364.1:p.His1168Pro
XM_011533064.2:c.3353A>C	XP_011531366.1:p.His1118Pro
NM_001382394.1:c.3503A>C	NP_001369323.1:p.His1168Pro
NM_001382395.1:c.3479A>C	NP_001369324.1:p.His1160Pro
NM_005633.4:c.3524A>C MANE Select	NP_005624.2:p.His1175Pro