Canonical Allele Identifier: CA346363312

Gene: SOS1

Linked Data

• ClinVar Variation Id: 505408
• ClinVar RCV Id: RCV000612075 ; RCV002470931 ; RCV002529338
• dbSNP Id: rs1553353452
• MyVariant Identifiers: chr2:g.39234174C>T (hg19) ; chr2:g.39007033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39007033C>T , CM000664.2:g.39007033C>T	GRCh38
NC_000002.11:g.39234174C>T , CM000664.1:g.39234174C>T	GRCh37
NC_000002.10:g.39087678C>T	NCBI36
NG_007530.1:g.118431G>A , LRG_754:g.118431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1438G>A	ENSP00000509424.1:p.Glu480Lys
ENST00000689668.1:n.2678G>A
ENST00000690876.1:c.2560G>A	ENSP00000508955.1:p.Glu854Lys
ENST00000691229.1:c.2440G>A	ENSP00000510437.1:p.Glu814Lys
ENST00000692089.1:c.2560G>A	ENSP00000508626.1:p.Glu854Lys
ENST00000692227.1:c.367G>A	ENSP00000509138.1:p.Glu123Lys
ENST00000692620.1:c.*258G>A	ENSP00000509311.1:n.*258G>A
ENST00000402219.8:c.2671G>A MANE Select	ENSP00000384675.2:p.Glu891Lys
ENST00000395038.6:c.2671G>A	ENSP00000378479.2:p.Glu891Lys
ENST00000402219.6:c.2671G>A	ENSP00000384675.2:p.Glu891Lys
ENST00000426016.5:c.2671G>A	ENSP00000387784.1:p.Glu891Lys
ENST00000474390.1:n.467G>A
NM_005633.3:c.2671G>A , LRG_754t1:c.2671G>A	NP_005624.2:p.Glu891Lys
XM_005264515.3:c.2671G>A	XP_005264572.1:p.Glu891Lys
XM_011533060.1:c.2764G>A	XP_011531362.1:p.Glu922Lys
XM_011533061.1:c.2764G>A	XP_011531363.1:p.Glu922Lys
XM_011533062.1:c.2650G>A	XP_011531364.1:p.Glu884Lys
XM_011533063.1:c.2647G>A	XP_011531365.1:p.Glu883Lys
XM_011533064.1:c.2500G>A	XP_011531366.1:p.Glu834Lys
XM_011533065.1:c.2764G>A	XP_011531367.1:p.Glu922Lys
XM_011533066.1:c.1606G>A	XP_011531368.1:p.Glu536Lys
XM_005264515.4:c.2671G>A	XP_005264572.1:p.Glu891Lys
XM_011533062.2:c.2650G>A	XP_011531364.1:p.Glu884Lys
XM_011533064.2:c.2500G>A	XP_011531366.1:p.Glu834Lys
NM_001382394.1:c.2650G>A	NP_001369323.1:p.Glu884Lys
NM_001382395.1:c.2671G>A	NP_001369324.1:p.Glu891Lys
NM_005633.4:c.2671G>A MANE Select	NP_005624.2:p.Glu891Lys