Canonical Allele Identifier: CA346373979

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40648
• ClinVar RCV Id: RCV000545153 ; RCV001261068
• MyVariant Identifiers: chr2:g.39285906A>G (hg19) ; chr2:g.39058765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39058765A>G , CM000664.2:g.39058765A>G	GRCh38
NC_000002.11:g.39285906A>G , CM000664.1:g.39285906A>G	GRCh37
NC_000002.10:g.39139410A>G	NCBI36
NG_007530.1:g.66699T>C , LRG_754:g.66699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.280T>C
ENST00000685782.1:n.1091T>C
ENST00000688189.1:n.18T>C
ENST00000689668.1:n.260T>C
ENST00000690679.1:c.353T>C
ENST00000690876.1:c.253T>C	ENSP00000508955.1:p.Trp85Arg
ENST00000691229.1:c.253T>C	ENSP00000510437.1:p.Trp85Arg
ENST00000692089.1:c.253T>C	ENSP00000508626.1:p.Trp85Arg
ENST00000402219.8:c.253T>C MANE Select	ENSP00000384675.2:p.Trp85Arg
ENST00000395038.6:c.253T>C	ENSP00000378479.2:p.Trp85Arg
ENST00000402219.6:c.253T>C	ENSP00000384675.2:p.Trp85Arg
ENST00000426016.5:c.253T>C	ENSP00000387784.1:p.Trp85Arg
ENST00000451331.1:c.82T>C	ENSP00000393899.1:p.Trp28Arg
NM_005633.3:c.253T>C , LRG_754t1:c.253T>C	NP_005624.2:p.Trp85Arg
XM_005264515.3:c.253T>C	XP_005264572.1:p.Trp85Arg
XM_011533060.1:c.346T>C	XP_011531362.1:p.Trp116Arg
XM_011533061.1:c.346T>C	XP_011531363.1:p.Trp116Arg
XM_011533062.1:c.232T>C	XP_011531364.1:p.Trp78Arg
XM_011533063.1:c.229T>C	XP_011531365.1:p.Trp77Arg
XM_011533064.1:c.82T>C	XP_011531366.1:p.Trp28Arg
XM_011533065.1:c.346T>C	XP_011531367.1:p.Trp116Arg
XM_005264515.4:c.253T>C	XP_005264572.1:p.Trp85Arg
XM_011533062.2:c.232T>C	XP_011531364.1:p.Trp78Arg
XM_011533064.2:c.82T>C	XP_011531366.1:p.Trp28Arg
NM_001382394.1:c.232T>C	NP_001369323.1:p.Trp78Arg
NM_001382395.1:c.253T>C	NP_001369324.1:p.Trp85Arg
NM_005633.4:c.253T>C MANE Select	NP_005624.2:p.Trp85Arg