Canonical Allele Identifier: CA346366484

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40670
• ClinVar RCV Id: RCV001002596 ; RCV001217212 ; RCV002467510 ; RCV003460541 ; RCV001508984
• dbSNP Id: rs397517148
• MyVariant Identifiers: chr2:g.39250269C>G (hg19) ; chr2:g.39023128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023128C>G , CM000664.2:g.39023128C>G	GRCh38
NC_000002.11:g.39250269C>G , CM000664.1:g.39250269C>G	GRCh37
NC_000002.10:g.39103773C>G	NCBI36
NG_007530.1:g.102336G>C , LRG_754:g.102336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1180G>C
ENST00000685279.1:c.67G>C	ENSP00000509424.1:p.Gly23Arg
ENST00000688043.1:n.1521G>C
ENST00000689668.1:n.1307G>C
ENST00000690876.1:c.1189G>C	ENSP00000508955.1:p.Gly397Arg
ENST00000691229.1:c.1189G>C	ENSP00000510437.1:p.Gly397Arg
ENST00000692089.1:c.1189G>C	ENSP00000508626.1:p.Gly397Arg
ENST00000692620.1:c.67G>C	ENSP00000509311.1:p.Gly23Arg
ENST00000402219.8:c.1300G>C MANE Select	ENSP00000384675.2:p.Gly434Arg
ENST00000395038.6:c.1300G>C	ENSP00000378479.2:p.Gly434Arg
ENST00000402219.6:c.1300G>C	ENSP00000384675.2:p.Gly434Arg
ENST00000426016.5:c.1300G>C	ENSP00000387784.1:p.Gly434Arg
ENST00000472480.1:n.144G>C
NM_005633.3:c.1300G>C , LRG_754t1:c.1300G>C	NP_005624.2:p.Gly434Arg
XM_005264515.3:c.1300G>C	XP_005264572.1:p.Gly434Arg
XM_011533060.1:c.1393G>C	XP_011531362.1:p.Gly465Arg
XM_011533061.1:c.1393G>C	XP_011531363.1:p.Gly465Arg
XM_011533062.1:c.1279G>C	XP_011531364.1:p.Gly427Arg
XM_011533063.1:c.1276G>C	XP_011531365.1:p.Gly426Arg
XM_011533064.1:c.1129G>C	XP_011531366.1:p.Gly377Arg
XM_011533065.1:c.1393G>C	XP_011531367.1:p.Gly465Arg
XM_011533066.1:c.235G>C	XP_011531368.1:p.Gly79Arg
XM_005264515.4:c.1300G>C	XP_005264572.1:p.Gly434Arg
XM_011533062.2:c.1279G>C	XP_011531364.1:p.Gly427Arg
XM_011533064.2:c.1129G>C	XP_011531366.1:p.Gly377Arg
NM_001382394.1:c.1279G>C	NP_001369323.1:p.Gly427Arg
NM_001382395.1:c.1300G>C	NP_001369324.1:p.Gly434Arg
NM_005633.4:c.1300G>C MANE Select	NP_005624.2:p.Gly434Arg