Canonical Allele Identifier: CA346366054

Gene: SOS1

Linked Data

• ClinVar Variation Id: 934560
• ClinVar RCV Id: RCV001202974
• dbSNP Id: rs371314838
• MyVariant Identifiers: chr2:g.39250079C>G (hg19) ; chr2:g.39022938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022938C>G , CM000664.2:g.39022938C>G	GRCh38
NC_000002.11:g.39250079C>G , CM000664.1:g.39250079C>G	GRCh37
NC_000002.10:g.39103583C>G	NCBI36
NG_007530.1:g.102526G>C , LRG_754:g.102526G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1370G>C
ENST00000685279.1:c.257G>C	ENSP00000509424.1:p.Arg86Pro
ENST00000688043.1:n.1711G>C
ENST00000689668.1:n.1497G>C
ENST00000690876.1:c.1379G>C	ENSP00000508955.1:p.Arg460Pro
ENST00000691229.1:c.1379G>C	ENSP00000510437.1:p.Arg460Pro
ENST00000692089.1:c.1379G>C	ENSP00000508626.1:p.Arg460Pro
ENST00000692620.1:c.257G>C	ENSP00000509311.1:p.Arg86Pro
ENST00000402219.8:c.1490G>C MANE Select	ENSP00000384675.2:p.Arg497Pro
ENST00000395038.6:c.1490G>C	ENSP00000378479.2:p.Arg497Pro
ENST00000402219.6:c.1490G>C	ENSP00000384675.2:p.Arg497Pro
ENST00000426016.5:c.1490G>C	ENSP00000387784.1:p.Arg497Pro
ENST00000472480.1:n.334G>C
NM_005633.3:c.1490G>C , LRG_754t1:c.1490G>C	NP_005624.2:p.Arg497Pro
XM_005264515.3:c.1490G>C	XP_005264572.1:p.Arg497Pro
XM_011533060.1:c.1583G>C	XP_011531362.1:p.Arg528Pro
XM_011533061.1:c.1583G>C	XP_011531363.1:p.Arg528Pro
XM_011533062.1:c.1469G>C	XP_011531364.1:p.Arg490Pro
XM_011533063.1:c.1466G>C	XP_011531365.1:p.Arg489Pro
XM_011533064.1:c.1319G>C	XP_011531366.1:p.Arg440Pro
XM_011533065.1:c.1583G>C	XP_011531367.1:p.Arg528Pro
XM_011533066.1:c.425G>C	XP_011531368.1:p.Arg142Pro
XM_005264515.4:c.1490G>C	XP_005264572.1:p.Arg497Pro
XM_011533062.2:c.1469G>C	XP_011531364.1:p.Arg490Pro
XM_011533064.2:c.1319G>C	XP_011531366.1:p.Arg440Pro
NM_001382394.1:c.1469G>C	NP_001369323.1:p.Arg490Pro
NM_001382395.1:c.1490G>C	NP_001369324.1:p.Arg497Pro
NM_005633.4:c.1490G>C MANE Select	NP_005624.2:p.Arg497Pro