Canonical Allele Identifier: CA297273

Gene: SOS1

Linked Data

• ClinVar Variation Id: 181553
• ClinVar RCV Id: RCV000159173 ; RCV000696409 ; RCV000780747
• dbSNP Id: rs730881046
• MyVariant Identifiers: chr2:g.39249923G>T (hg19) ; chr2:g.39022782G>T (hg38)
• ERepo: CA297273/MONDO:0021060/004

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022782G>T , CM000664.2:g.39022782G>T	GRCh38
NC_000002.11:g.39249923G>T , CM000664.1:g.39249923G>T	GRCh37
NC_000002.10:g.39103427G>T	NCBI36
NG_007530.1:g.102682C>A , LRG_754:g.102682C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1526C>A
ENST00000685279.1:c.413C>A	ENSP00000509424.1:p.Thr138Lys
ENST00000688043.1:n.1867C>A
ENST00000689668.1:n.1653C>A
ENST00000690876.1:c.1535C>A	ENSP00000508955.1:p.Thr512Lys
ENST00000691229.1:c.1535C>A	ENSP00000510437.1:p.Thr512Lys
ENST00000692089.1:c.1535C>A	ENSP00000508626.1:p.Thr512Lys
ENST00000692620.1:c.413C>A	ENSP00000509311.1:p.Thr138Lys
ENST00000402219.8:c.1646C>A MANE Select	ENSP00000384675.2:p.Thr549Lys
ENST00000395038.6:c.1646C>A	ENSP00000378479.2:p.Thr549Lys
ENST00000402219.6:c.1646C>A	ENSP00000384675.2:p.Thr549Lys
ENST00000426016.5:c.1646C>A	ENSP00000387784.1:p.Thr549Lys
NM_005633.3:c.1646C>A , LRG_754t1:c.1646C>A	NP_005624.2:p.Thr549Lys
XM_005264515.3:c.1646C>A	XP_005264572.1:p.Thr549Lys
XM_011533060.1:c.1739C>A	XP_011531362.1:p.Thr580Lys
XM_011533061.1:c.1739C>A	XP_011531363.1:p.Thr580Lys
XM_011533062.1:c.1625C>A	XP_011531364.1:p.Thr542Lys
XM_011533063.1:c.1622C>A	XP_011531365.1:p.Thr541Lys
XM_011533064.1:c.1475C>A	XP_011531366.1:p.Thr492Lys
XM_011533065.1:c.1739C>A	XP_011531367.1:p.Thr580Lys
XM_011533066.1:c.581C>A	XP_011531368.1:p.Thr194Lys
XM_005264515.4:c.1646C>A	XP_005264572.1:p.Thr549Lys
XM_011533062.2:c.1625C>A	XP_011531364.1:p.Thr542Lys
XM_011533064.2:c.1475C>A	XP_011531366.1:p.Thr492Lys
NM_001382394.1:c.1625C>A	NP_001369323.1:p.Thr542Lys
NM_001382395.1:c.1646C>A	NP_001369324.1:p.Thr549Lys
NM_005633.4:c.1646C>A MANE Select	NP_005624.2:p.Thr549Lys