Canonical Allele Identifier: CA45674720
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1419167
ClinVar RCV Id: RCV001931116 RCV003167220
dbSNP Id: rs994463655
gnomAD v4: 2-39022962-C-T
MyVariant Identifiers: chr2:g.39250103C>T (hg19) chr2:g.39022962C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022962C>T , CM000664.2:g.39022962C>T GRCh38
NC_000002.11:g.39250103C>T , CM000664.1:g.39250103C>T GRCh37
NC_000002.10:g.39103607C>T NCBI36
NG_007530.1:g.102502G>A , LRG_754:g.102502G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1346G>A
ENST00000685279.1:c.233G>A ENSP00000509424.1:p.Arg78His
ENST00000688043.1:n.1687G>A
ENST00000689668.1:n.1473G>A
ENST00000690876.1:c.1355G>A ENSP00000508955.1:p.Arg452His
ENST00000691229.1:c.1355G>A ENSP00000510437.1:p.Arg452His
ENST00000692089.1:c.1355G>A ENSP00000508626.1:p.Arg452His
ENST00000692620.1:c.233G>A ENSP00000509311.1:p.Arg78His
ENST00000402219.8:c.1466G>A MANE Select ENSP00000384675.2:p.Arg489His
ENST00000395038.6:c.1466G>A ENSP00000378479.2:p.Arg489His
ENST00000402219.6:c.1466G>A ENSP00000384675.2:p.Arg489His
ENST00000426016.5:c.1466G>A ENSP00000387784.1:p.Arg489His
ENST00000472480.1:n.310G>A
NM_005633.3:c.1466G>A , LRG_754t1:c.1466G>A NP_005624.2:p.Arg489His
XM_005264515.3:c.1466G>A XP_005264572.1:p.Arg489His
XM_011533060.1:c.1559G>A XP_011531362.1:p.Arg520His
XM_011533061.1:c.1559G>A XP_011531363.1:p.Arg520His
XM_011533062.1:c.1445G>A XP_011531364.1:p.Arg482His
XM_011533063.1:c.1442G>A XP_011531365.1:p.Arg481His
XM_011533064.1:c.1295G>A XP_011531366.1:p.Arg432His
XM_011533065.1:c.1559G>A XP_011531367.1:p.Arg520His
XM_011533066.1:c.401G>A XP_011531368.1:p.Arg134His
XM_005264515.4:c.1466G>A XP_005264572.1:p.Arg489His
XM_011533062.2:c.1445G>A XP_011531364.1:p.Arg482His
XM_011533064.2:c.1295G>A XP_011531366.1:p.Arg432His
NM_001382394.1:c.1445G>A NP_001369323.1:p.Arg482His
NM_001382395.1:c.1466G>A NP_001369324.1:p.Arg489His
NM_005633.4:c.1466G>A MANE Select NP_005624.2:p.Arg489His
Search 100 bp 5'
Search 100 bp 3'