Canonical Allele Identifier: CA346366661

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250341G>C (hg19) ; chr2:g.39023200G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023200G>C , CM000664.2:g.39023200G>C	GRCh38
NC_000002.11:g.39250341G>C , CM000664.1:g.39250341G>C	GRCh37
NC_000002.10:g.39103845G>C	NCBI36
NG_007530.1:g.102264C>G , LRG_754:g.102264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1108C>G
ENST00000685279.1:c.-6C>G	ENSP00000509424.1:n.-6C>G
ENST00000688043.1:n.1449C>G
ENST00000689668.1:n.1235C>G
ENST00000690679.1:c.1415C>G
ENST00000690876.1:c.1117C>G	ENSP00000508955.1:p.Gln373Glu
ENST00000691229.1:c.1117C>G	ENSP00000510437.1:p.Gln373Glu
ENST00000692089.1:c.1117C>G	ENSP00000508626.1:p.Gln373Glu
ENST00000692620.1:c.-6C>G	ENSP00000509311.1:n.-6C>G
ENST00000402219.8:c.1228C>G MANE Select	ENSP00000384675.2:p.Gln410Glu
ENST00000395038.6:c.1228C>G	ENSP00000378479.2:p.Gln410Glu
ENST00000402219.6:c.1228C>G	ENSP00000384675.2:p.Gln410Glu
ENST00000426016.5:c.1228C>G	ENSP00000387784.1:p.Gln410Glu
ENST00000472480.1:n.72C>G
NM_005633.3:c.1228C>G , LRG_754t1:c.1228C>G	NP_005624.2:p.Gln410Glu
XM_005264515.3:c.1228C>G	XP_005264572.1:p.Gln410Glu
XM_011533060.1:c.1321C>G	XP_011531362.1:p.Gln441Glu
XM_011533061.1:c.1321C>G	XP_011531363.1:p.Gln441Glu
XM_011533062.1:c.1207C>G	XP_011531364.1:p.Gln403Glu
XM_011533063.1:c.1204C>G	XP_011531365.1:p.Gln402Glu
XM_011533064.1:c.1057C>G	XP_011531366.1:p.Gln353Glu
XM_011533065.1:c.1321C>G	XP_011531367.1:p.Gln441Glu
XM_011533066.1:c.163C>G	XP_011531368.1:p.Gln55Glu
XM_005264515.4:c.1228C>G	XP_005264572.1:p.Gln410Glu
XM_011533062.2:c.1207C>G	XP_011531364.1:p.Gln403Glu
XM_011533064.2:c.1057C>G	XP_011531366.1:p.Gln353Glu
NM_001382394.1:c.1207C>G	NP_001369323.1:p.Gln403Glu
NM_001382395.1:c.1228C>G	NP_001369324.1:p.Gln410Glu
NM_005633.4:c.1228C>G MANE Select	NP_005624.2:p.Gln410Glu