Canonical Allele Identifier: CA136080
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45347
ClinVar RCV Id: RCV000038518
dbSNP Id: rs397517152
MyVariant Identifiers: chr2:g.39250140G>T (hg19) chr2:g.39022999G>T (hg38)
PubMed: PMID:17586837 PMID:20683980 PMID:21387466
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022999G>T , CM000664.2:g.39022999G>T GRCh38
NC_000002.11:g.39250140G>T , CM000664.1:g.39250140G>T GRCh37
NC_000002.10:g.39103644G>T NCBI36
NG_007530.1:g.102465C>A , LRG_754:g.102465C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1309C>A
ENST00000685279.1:c.196C>A ENSP00000509424.1:p.Gln66Lys
ENST00000688043.1:n.1650C>A
ENST00000689668.1:n.1436C>A
ENST00000690876.1:c.1318C>A ENSP00000508955.1:p.Gln440Lys
ENST00000691229.1:c.1318C>A ENSP00000510437.1:p.Gln440Lys
ENST00000692089.1:c.1318C>A ENSP00000508626.1:p.Gln440Lys
ENST00000692620.1:c.196C>A ENSP00000509311.1:p.Gln66Lys
ENST00000402219.8:c.1429C>A MANE Select ENSP00000384675.2:p.Gln477Lys
ENST00000395038.6:c.1429C>A ENSP00000378479.2:p.Gln477Lys
ENST00000402219.6:c.1429C>A ENSP00000384675.2:p.Gln477Lys
ENST00000426016.5:c.1429C>A ENSP00000387784.1:p.Gln477Lys
ENST00000472480.1:n.273C>A
NM_005633.3:c.1429C>A , LRG_754t1:c.1429C>A NP_005624.2:p.Gln477Lys
XM_005264515.3:c.1429C>A XP_005264572.1:p.Gln477Lys
XM_011533060.1:c.1522C>A XP_011531362.1:p.Gln508Lys
XM_011533061.1:c.1522C>A XP_011531363.1:p.Gln508Lys
XM_011533062.1:c.1408C>A XP_011531364.1:p.Gln470Lys
XM_011533063.1:c.1405C>A XP_011531365.1:p.Gln469Lys
XM_011533064.1:c.1258C>A XP_011531366.1:p.Gln420Lys
XM_011533065.1:c.1522C>A XP_011531367.1:p.Gln508Lys
XM_011533066.1:c.364C>A XP_011531368.1:p.Gln122Lys
XM_005264515.4:c.1429C>A XP_005264572.1:p.Gln477Lys
XM_011533062.2:c.1408C>A XP_011531364.1:p.Gln470Lys
XM_011533064.2:c.1258C>A XP_011531366.1:p.Gln420Lys
NM_001382394.1:c.1408C>A NP_001369323.1:p.Gln470Lys
NM_001382395.1:c.1429C>A NP_001369324.1:p.Gln477Lys
NM_005633.4:c.1429C>A MANE Select NP_005624.2:p.Gln477Lys
Search 100 bp 5'
Search 100 bp 3'