Canonical Allele Identifier: CA346372980

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39281792T>A (hg19) ; chr2:g.39054651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054651T>A , CM000664.2:g.39054651T>A	GRCh38
NC_000002.11:g.39281792T>A , CM000664.1:g.39281792T>A	GRCh37
NC_000002.10:g.39135296T>A	NCBI36
NG_007530.1:g.70813A>T , LRG_754:g.70813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.710A>T
ENST00000685782.1:n.1521A>T
ENST00000688189.1:n.448A>T
ENST00000689668.1:n.690A>T
ENST00000690679.1:c.783A>T
ENST00000690876.1:c.683A>T	ENSP00000508955.1:p.Glu228Val
ENST00000691229.1:c.683A>T	ENSP00000510437.1:p.Glu228Val
ENST00000692089.1:c.683A>T	ENSP00000508626.1:p.Glu228Val
ENST00000402219.8:c.683A>T MANE Select	ENSP00000384675.2:p.Glu228Val
ENST00000395038.6:c.683A>T	ENSP00000378479.2:p.Glu228Val
ENST00000402219.6:c.683A>T	ENSP00000384675.2:p.Glu228Val
ENST00000426016.5:c.683A>T	ENSP00000387784.1:p.Glu228Val
NM_005633.3:c.683A>T , LRG_754t1:c.683A>T	NP_005624.2:p.Glu228Val
XM_005264515.3:c.683A>T	XP_005264572.1:p.Glu228Val
XM_011533060.1:c.776A>T	XP_011531362.1:p.Glu259Val
XM_011533061.1:c.776A>T	XP_011531363.1:p.Glu259Val
XM_011533062.1:c.662A>T	XP_011531364.1:p.Glu221Val
XM_011533063.1:c.659A>T	XP_011531365.1:p.Glu220Val
XM_011533064.1:c.512A>T	XP_011531366.1:p.Glu171Val
XM_011533065.1:c.776A>T	XP_011531367.1:p.Glu259Val
XM_005264515.4:c.683A>T	XP_005264572.1:p.Glu228Val
XM_011533062.2:c.662A>T	XP_011531364.1:p.Glu221Val
XM_011533064.2:c.512A>T	XP_011531366.1:p.Glu171Val
NM_001382394.1:c.662A>T	NP_001369323.1:p.Glu221Val
NM_001382395.1:c.683A>T	NP_001369324.1:p.Glu228Val
NM_005633.4:c.683A>T MANE Select	NP_005624.2:p.Glu228Val