Canonical Allele Identifier: CA346365197
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 636262
ClinVar RCV Id: RCV000788001 RCV000856753 RCV001196815 RCV003166075 RCV003313978
dbSNP Id: rs727505093
MyVariant Identifiers: chr2:g.39241979A>T (hg19) chr2:g.39014838A>T (hg38)
ERepo: CA346365197/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39014838A>T , CM000664.2:g.39014838A>T GRCh38
NC_000002.11:g.39241979A>T , CM000664.1:g.39241979A>T GRCh37
NC_000002.10:g.39095483A>T NCBI36
NG_007530.1:g.110626T>A , LRG_754:g.110626T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000685279.1:c.634T>A ENSP00000509424.1:p.Phe212Ile
ENST00000688043.1:n.2088T>A
ENST00000689668.1:n.1874T>A
ENST00000690876.1:c.1756T>A ENSP00000508955.1:p.Phe586Ile
ENST00000691229.1:c.1756T>A ENSP00000510437.1:p.Phe586Ile
ENST00000692089.1:c.1756T>A ENSP00000508626.1:p.Phe586Ile
ENST00000692620.1:c.634T>A ENSP00000509311.1:p.Phe212Ile
ENST00000402219.8:c.1867T>A MANE Select ENSP00000384675.2:p.Phe623Ile
ENST00000395038.6:c.1867T>A ENSP00000378479.2:p.Phe623Ile
ENST00000402219.6:c.1867T>A ENSP00000384675.2:p.Phe623Ile
ENST00000426016.5:c.1867T>A ENSP00000387784.1:p.Phe623Ile
NM_005633.3:c.1867T>A , LRG_754t1:c.1867T>A NP_005624.2:p.Phe623Ile
XM_005264515.3:c.1867T>A XP_005264572.1:p.Phe623Ile
XM_011533060.1:c.1960T>A XP_011531362.1:p.Phe654Ile
XM_011533061.1:c.1960T>A XP_011531363.1:p.Phe654Ile
XM_011533062.1:c.1846T>A XP_011531364.1:p.Phe616Ile
XM_011533063.1:c.1843T>A XP_011531365.1:p.Phe615Ile
XM_011533064.1:c.1696T>A XP_011531366.1:p.Phe566Ile
XM_011533065.1:c.1960T>A XP_011531367.1:p.Phe654Ile
XM_011533066.1:c.802T>A XP_011531368.1:p.Phe268Ile
XM_005264515.4:c.1867T>A XP_005264572.1:p.Phe623Ile
XM_011533062.2:c.1846T>A XP_011531364.1:p.Phe616Ile
XM_011533064.2:c.1696T>A XP_011531366.1:p.Phe566Ile
NM_001382394.1:c.1846T>A NP_001369323.1:p.Phe616Ile
NM_001382395.1:c.1867T>A NP_001369324.1:p.Phe623Ile
NM_005633.4:c.1867T>A MANE Select NP_005624.2:p.Phe623Ile
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