Canonical Allele Identifier: CA1624754

Gene: SOS1

Linked Data

• ClinVar Variation Id: 496310
• ClinVar RCV Id: RCV000586137 ; RCV003409858 ; RCV002483570 ; RCV002532352
• dbSNP Id: rs374761537
• ExAC: 2:39281837 C / T
• gnomAD v2: 2-39281837-C-T
• gnomAD v3: 2-39054696-C-T
• gnomAD v4: 2-39054696-C-T
• MyVariant Identifiers: chr2:g.39281837C>T (hg19) ; chr2:g.39054696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054696C>T , CM000664.2:g.39054696C>T	GRCh38
NC_000002.11:g.39281837C>T , CM000664.1:g.39281837C>T	GRCh37
NC_000002.10:g.39135341C>T	NCBI36
NG_007530.1:g.70768G>A , LRG_754:g.70768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.665G>A
ENST00000685782.1:n.1476G>A
ENST00000688189.1:n.403G>A
ENST00000689668.1:n.645G>A
ENST00000690679.1:c.738G>A
ENST00000690876.1:c.638G>A	ENSP00000508955.1:p.Arg213Gln
ENST00000691229.1:c.638G>A	ENSP00000510437.1:p.Arg213Gln
ENST00000692089.1:c.638G>A	ENSP00000508626.1:p.Arg213Gln
ENST00000402219.8:c.638G>A MANE Select	ENSP00000384675.2:p.Arg213Gln
ENST00000395038.6:c.638G>A	ENSP00000378479.2:p.Arg213Gln
ENST00000402219.6:c.638G>A	ENSP00000384675.2:p.Arg213Gln
ENST00000426016.5:c.638G>A	ENSP00000387784.1:p.Arg213Gln
NM_005633.3:c.638G>A , LRG_754t1:c.638G>A	NP_005624.2:p.Arg213Gln
XM_005264515.3:c.638G>A	XP_005264572.1:p.Arg213Gln
XM_011533060.1:c.731G>A	XP_011531362.1:p.Arg244Gln
XM_011533061.1:c.731G>A	XP_011531363.1:p.Arg244Gln
XM_011533062.1:c.617G>A	XP_011531364.1:p.Arg206Gln
XM_011533063.1:c.614G>A	XP_011531365.1:p.Arg205Gln
XM_011533064.1:c.467G>A	XP_011531366.1:p.Arg156Gln
XM_011533065.1:c.731G>A	XP_011531367.1:p.Arg244Gln
XM_005264515.4:c.638G>A	XP_005264572.1:p.Arg213Gln
XM_011533062.2:c.617G>A	XP_011531364.1:p.Arg206Gln
XM_011533064.2:c.467G>A	XP_011531366.1:p.Arg156Gln
NM_001382394.1:c.617G>A	NP_001369323.1:p.Arg206Gln
NM_001382395.1:c.638G>A	NP_001369324.1:p.Arg213Gln
NM_005633.4:c.638G>A MANE Select	NP_005624.2:p.Arg213Gln