Canonical Allele Identifier: CA346372970

Gene: SOS1

Linked Data

• gnomAD v4: 2-39054646-A-T
• MyVariant Identifiers: chr2:g.39281787A>T (hg19) ; chr2:g.39054646A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054646A>T , CM000664.2:g.39054646A>T	GRCh38
NC_000002.11:g.39281787A>T , CM000664.1:g.39281787A>T	GRCh37
NC_000002.10:g.39135291A>T	NCBI36
NG_007530.1:g.70818T>A , LRG_754:g.70818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.715T>A
ENST00000685782.1:n.1526T>A
ENST00000688189.1:n.453T>A
ENST00000689668.1:n.695T>A
ENST00000690679.1:c.788T>A
ENST00000690876.1:c.688T>A	ENSP00000508955.1:p.Phe230Ile
ENST00000691229.1:c.688T>A	ENSP00000510437.1:p.Phe230Ile
ENST00000692089.1:c.688T>A	ENSP00000508626.1:p.Phe230Ile
ENST00000402219.8:c.688T>A MANE Select	ENSP00000384675.2:p.Phe230Ile
ENST00000395038.6:c.688T>A	ENSP00000378479.2:p.Phe230Ile
ENST00000402219.6:c.688T>A	ENSP00000384675.2:p.Phe230Ile
ENST00000426016.5:c.688T>A	ENSP00000387784.1:p.Phe230Ile
NM_005633.3:c.688T>A , LRG_754t1:c.688T>A	NP_005624.2:p.Phe230Ile
XM_005264515.3:c.688T>A	XP_005264572.1:p.Phe230Ile
XM_011533060.1:c.781T>A	XP_011531362.1:p.Phe261Ile
XM_011533061.1:c.781T>A	XP_011531363.1:p.Phe261Ile
XM_011533062.1:c.667T>A	XP_011531364.1:p.Phe223Ile
XM_011533063.1:c.664T>A	XP_011531365.1:p.Phe222Ile
XM_011533064.1:c.517T>A	XP_011531366.1:p.Phe173Ile
XM_011533065.1:c.781T>A	XP_011531367.1:p.Phe261Ile
XM_005264515.4:c.688T>A	XP_005264572.1:p.Phe230Ile
XM_011533062.2:c.667T>A	XP_011531364.1:p.Phe223Ile
XM_011533064.2:c.517T>A	XP_011531366.1:p.Phe173Ile
NM_001382394.1:c.667T>A	NP_001369323.1:p.Phe223Ile
NM_001382395.1:c.688T>A	NP_001369324.1:p.Phe230Ile
NM_005633.4:c.688T>A MANE Select	NP_005624.2:p.Phe230Ile