Canonical Allele Identifier: CA346364479

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2756947
• ClinVar RCV Id: RCV003540331
• MyVariant Identifiers: chr2:g.39239486T>A (hg19) ; chr2:g.39012345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012345T>A , CM000664.2:g.39012345T>A	GRCh38
NC_000002.11:g.39239486T>A , CM000664.1:g.39239486T>A	GRCh37
NC_000002.10:g.39092990T>A	NCBI36
NG_007530.1:g.113119A>T , LRG_754:g.113119A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.938A>T	ENSP00000509424.1:p.Lys313Ile
ENST00000688043.1:n.3503A>T
ENST00000689668.1:n.2178A>T
ENST00000690514.1:n.260A>T
ENST00000690876.1:c.2060A>T	ENSP00000508955.1:p.Lys687Ile
ENST00000691229.1:c.2060A>T	ENSP00000510437.1:p.Lys687Ile
ENST00000692089.1:c.2060A>T	ENSP00000508626.1:p.Lys687Ile
ENST00000692620.1:c.934+1115A>T	ENSP00000509311.1:n.934+1115A>T
ENST00000402219.8:c.2171A>T MANE Select	ENSP00000384675.2:p.Lys724Ile
ENST00000395038.6:c.2171A>T	ENSP00000378479.2:p.Lys724Ile
ENST00000402219.6:c.2171A>T	ENSP00000384675.2:p.Lys724Ile
ENST00000426016.5:c.2171A>T	ENSP00000387784.1:p.Lys724Ile
NM_005633.3:c.2171A>T , LRG_754t1:c.2171A>T	NP_005624.2:p.Lys724Ile
XM_005264515.3:c.2171A>T	XP_005264572.1:p.Lys724Ile
XM_011533060.1:c.2264A>T	XP_011531362.1:p.Lys755Ile
XM_011533061.1:c.2264A>T	XP_011531363.1:p.Lys755Ile
XM_011533062.1:c.2150A>T	XP_011531364.1:p.Lys717Ile
XM_011533063.1:c.2147A>T	XP_011531365.1:p.Lys716Ile
XM_011533064.1:c.2000A>T	XP_011531366.1:p.Lys667Ile
XM_011533065.1:c.2264A>T	XP_011531367.1:p.Lys755Ile
XM_011533066.1:c.1106A>T	XP_011531368.1:p.Lys369Ile
XM_005264515.4:c.2171A>T	XP_005264572.1:p.Lys724Ile
XM_011533062.2:c.2150A>T	XP_011531364.1:p.Lys717Ile
XM_011533064.2:c.2000A>T	XP_011531366.1:p.Lys667Ile
NM_001382394.1:c.2150A>T	NP_001369323.1:p.Lys717Ile
NM_001382395.1:c.2171A>T	NP_001369324.1:p.Lys724Ile
NM_005633.4:c.2171A>T MANE Select	NP_005624.2:p.Lys724Ile