Canonical Allele Identifier: CA346366226

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250156A>T (hg19) ; chr2:g.39023015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023015A>T , CM000664.2:g.39023015A>T	GRCh38
NC_000002.11:g.39250156A>T , CM000664.1:g.39250156A>T	GRCh37
NC_000002.10:g.39103660A>T	NCBI36
NG_007530.1:g.102449T>A , LRG_754:g.102449T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1293T>A
ENST00000685279.1:c.180T>A	ENSP00000509424.1:p.Cys60Ter
ENST00000688043.1:n.1634T>A
ENST00000689668.1:n.1420T>A
ENST00000690876.1:c.1302T>A	ENSP00000508955.1:p.Cys434Ter
ENST00000691229.1:c.1302T>A	ENSP00000510437.1:p.Cys434Ter
ENST00000692089.1:c.1302T>A	ENSP00000508626.1:p.Cys434Ter
ENST00000692620.1:c.180T>A	ENSP00000509311.1:p.Cys60Ter
ENST00000402219.8:c.1413T>A MANE Select	ENSP00000384675.2:p.Cys471Ter
ENST00000395038.6:c.1413T>A	ENSP00000378479.2:p.Cys471Ter
ENST00000402219.6:c.1413T>A	ENSP00000384675.2:p.Cys471Ter
ENST00000426016.5:c.1413T>A	ENSP00000387784.1:p.Cys471Ter
ENST00000472480.1:n.257T>A
NM_005633.3:c.1413T>A , LRG_754t1:c.1413T>A	NP_005624.2:p.Cys471Ter
XM_005264515.3:c.1413T>A	XP_005264572.1:p.Cys471Ter
XM_011533060.1:c.1506T>A	XP_011531362.1:p.Cys502Ter
XM_011533061.1:c.1506T>A	XP_011531363.1:p.Cys502Ter
XM_011533062.1:c.1392T>A	XP_011531364.1:p.Cys464Ter
XM_011533063.1:c.1389T>A	XP_011531365.1:p.Cys463Ter
XM_011533064.1:c.1242T>A	XP_011531366.1:p.Cys414Ter
XM_011533065.1:c.1506T>A	XP_011531367.1:p.Cys502Ter
XM_011533066.1:c.348T>A	XP_011531368.1:p.Cys116Ter
XM_005264515.4:c.1413T>A	XP_005264572.1:p.Cys471Ter
XM_011533062.2:c.1392T>A	XP_011531364.1:p.Cys464Ter
XM_011533064.2:c.1242T>A	XP_011531366.1:p.Cys414Ter
NM_001382394.1:c.1392T>A	NP_001369323.1:p.Cys464Ter
NM_001382395.1:c.1413T>A	NP_001369324.1:p.Cys471Ter
NM_005633.4:c.1413T>A MANE Select	NP_005624.2:p.Cys471Ter