Canonical Allele Identifier: CA346365368
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2580077
ClinVar RCV Id: RCV003329052
dbSNP Id: rs1474528754
MyVariant Identifiers: chr2:g.39249774G>T (hg19) chr2:g.39022633G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022633G>T , CM000664.2:g.39022633G>T GRCh38
NC_000002.11:g.39249774G>T , CM000664.1:g.39249774G>T GRCh37
NC_000002.10:g.39103278G>T NCBI36
NG_007530.1:g.102831C>A , LRG_754:g.102831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1675C>A
ENST00000685279.1:c.562C>A ENSP00000509424.1:p.Pro188Thr
ENST00000688043.1:n.2016C>A
ENST00000689668.1:n.1802C>A
ENST00000690876.1:c.1684C>A ENSP00000508955.1:p.Pro562Thr
ENST00000691229.1:c.1684C>A ENSP00000510437.1:p.Pro562Thr
ENST00000692089.1:c.1684C>A ENSP00000508626.1:p.Pro562Thr
ENST00000692620.1:c.562C>A ENSP00000509311.1:p.Pro188Thr
ENST00000402219.8:c.1795C>A MANE Select ENSP00000384675.2:p.Pro599Thr
ENST00000395038.6:c.1795C>A ENSP00000378479.2:p.Pro599Thr
ENST00000402219.6:c.1795C>A ENSP00000384675.2:p.Pro599Thr
ENST00000426016.5:c.1795C>A ENSP00000387784.1:p.Pro599Thr
NM_005633.3:c.1795C>A , LRG_754t1:c.1795C>A NP_005624.2:p.Pro599Thr
XM_005264515.3:c.1795C>A XP_005264572.1:p.Pro599Thr
XM_011533060.1:c.1888C>A XP_011531362.1:p.Pro630Thr
XM_011533061.1:c.1888C>A XP_011531363.1:p.Pro630Thr
XM_011533062.1:c.1774C>A XP_011531364.1:p.Pro592Thr
XM_011533063.1:c.1771C>A XP_011531365.1:p.Pro591Thr
XM_011533064.1:c.1624C>A XP_011531366.1:p.Pro542Thr
XM_011533065.1:c.1888C>A XP_011531367.1:p.Pro630Thr
XM_011533066.1:c.730C>A XP_011531368.1:p.Pro244Thr
XM_005264515.4:c.1795C>A XP_005264572.1:p.Pro599Thr
XM_011533062.2:c.1774C>A XP_011531364.1:p.Pro592Thr
XM_011533064.2:c.1624C>A XP_011531366.1:p.Pro542Thr
NM_001382394.1:c.1774C>A NP_001369323.1:p.Pro592Thr
NM_001382395.1:c.1795C>A NP_001369324.1:p.Pro599Thr
NM_005633.4:c.1795C>A MANE Select NP_005624.2:p.Pro599Thr
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