Canonical Allele Identifier: CA297205
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40701
ClinVar RCV Id: RCV000159127 RCV000587797 RCV001233419 RCV002051800 RCV003407395
dbSNP Id: rs574088829
MyVariant Identifiers: chr2:g.39239460T>A (hg19) chr2:g.39012319T>A (hg38)
PubMed: PMID:17143282 PMID:20186801 PMID:21387466 PMID:23487764
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39012319T>A , CM000664.2:g.39012319T>A GRCh38
NC_000002.11:g.39239460T>A , CM000664.1:g.39239460T>A GRCh37
NC_000002.10:g.39092964T>A NCBI36
NG_007530.1:g.113145A>T , LRG_754:g.113145A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.964A>T ENSP00000509424.1:p.Ile322Phe
ENST00000688043.1:n.3529A>T
ENST00000689668.1:n.2204A>T
ENST00000690514.1:n.286A>T
ENST00000690876.1:c.2086A>T ENSP00000508955.1:p.Ile696Phe
ENST00000691229.1:c.2086A>T ENSP00000510437.1:p.Ile696Phe
ENST00000692089.1:c.2086A>T ENSP00000508626.1:p.Ile696Phe
ENST00000692620.1:c.934+1141A>T ENSP00000509311.1:n.934+1141A>T
ENST00000402219.8:c.2197A>T MANE Select ENSP00000384675.2:p.Ile733Phe
ENST00000395038.6:c.2197A>T ENSP00000378479.2:p.Ile733Phe
ENST00000402219.6:c.2197A>T ENSP00000384675.2:p.Ile733Phe
ENST00000426016.5:c.2197A>T ENSP00000387784.1:p.Ile733Phe
NM_005633.3:c.2197A>T , LRG_754t1:c.2197A>T NP_005624.2:p.Ile733Phe
XM_005264515.3:c.2197A>T XP_005264572.1:p.Ile733Phe
XM_011533060.1:c.2290A>T XP_011531362.1:p.Ile764Phe
XM_011533061.1:c.2290A>T XP_011531363.1:p.Ile764Phe
XM_011533062.1:c.2176A>T XP_011531364.1:p.Ile726Phe
XM_011533063.1:c.2173A>T XP_011531365.1:p.Ile725Phe
XM_011533064.1:c.2026A>T XP_011531366.1:p.Ile676Phe
XM_011533065.1:c.2290A>T XP_011531367.1:p.Ile764Phe
XM_011533066.1:c.1132A>T XP_011531368.1:p.Ile378Phe
XM_005264515.4:c.2197A>T XP_005264572.1:p.Ile733Phe
XM_011533062.2:c.2176A>T XP_011531364.1:p.Ile726Phe
XM_011533064.2:c.2026A>T XP_011531366.1:p.Ile676Phe
NM_001382394.1:c.2176A>T NP_001369323.1:p.Ile726Phe
NM_001382395.1:c.2197A>T NP_001369324.1:p.Ile733Phe
NM_005633.4:c.2197A>T MANE Select NP_005624.2:p.Ile733Phe
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