Canonical Allele Identifier: CA346366195
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2436241
ClinVar RCV Id: RCV003138578
MyVariant Identifiers: chr2:g.39250143C>T (hg19) chr2:g.39023002C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023002C>T , CM000664.2:g.39023002C>T GRCh38
NC_000002.11:g.39250143C>T , CM000664.1:g.39250143C>T GRCh37
NC_000002.10:g.39103647C>T NCBI36
NG_007530.1:g.102462G>A , LRG_754:g.102462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1306G>A
ENST00000685279.1:c.193G>A ENSP00000509424.1:p.Gly65Arg
ENST00000688043.1:n.1647G>A
ENST00000689668.1:n.1433G>A
ENST00000690876.1:c.1315G>A ENSP00000508955.1:p.Gly439Arg
ENST00000691229.1:c.1315G>A ENSP00000510437.1:p.Gly439Arg
ENST00000692089.1:c.1315G>A ENSP00000508626.1:p.Gly439Arg
ENST00000692620.1:c.193G>A ENSP00000509311.1:p.Gly65Arg
ENST00000402219.8:c.1426G>A MANE Select ENSP00000384675.2:p.Gly476Arg
ENST00000395038.6:c.1426G>A ENSP00000378479.2:p.Gly476Arg
ENST00000402219.6:c.1426G>A ENSP00000384675.2:p.Gly476Arg
ENST00000426016.5:c.1426G>A ENSP00000387784.1:p.Gly476Arg
ENST00000472480.1:n.270G>A
NM_005633.3:c.1426G>A , LRG_754t1:c.1426G>A NP_005624.2:p.Gly476Arg
XM_005264515.3:c.1426G>A XP_005264572.1:p.Gly476Arg
XM_011533060.1:c.1519G>A XP_011531362.1:p.Gly507Arg
XM_011533061.1:c.1519G>A XP_011531363.1:p.Gly507Arg
XM_011533062.1:c.1405G>A XP_011531364.1:p.Gly469Arg
XM_011533063.1:c.1402G>A XP_011531365.1:p.Gly468Arg
XM_011533064.1:c.1255G>A XP_011531366.1:p.Gly419Arg
XM_011533065.1:c.1519G>A XP_011531367.1:p.Gly507Arg
XM_011533066.1:c.361G>A XP_011531368.1:p.Gly121Arg
XM_005264515.4:c.1426G>A XP_005264572.1:p.Gly476Arg
XM_011533062.2:c.1405G>A XP_011531364.1:p.Gly469Arg
XM_011533064.2:c.1255G>A XP_011531366.1:p.Gly419Arg
NM_001382394.1:c.1405G>A NP_001369323.1:p.Gly469Arg
NM_001382395.1:c.1426G>A NP_001369324.1:p.Gly476Arg
NM_005633.4:c.1426G>A MANE Select NP_005624.2:p.Gly476Arg
Search 100 bp 5'
Search 100 bp 3'