Canonical Allele Identifier: CA346365603
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1423209129
gnomAD v2: 2-39249876-C-T
gnomAD v4: 2-39022735-C-T
MyVariant Identifiers: chr2:g.39249876C>T (hg19) chr2:g.39022735C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022735C>T , CM000664.2:g.39022735C>T GRCh38
NC_000002.11:g.39249876C>T , CM000664.1:g.39249876C>T GRCh37
NC_000002.10:g.39103380C>T NCBI36
NG_007530.1:g.102729G>A , LRG_754:g.102729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1573G>A
ENST00000685279.1:c.460G>A ENSP00000509424.1:p.Glu154Lys
ENST00000688043.1:n.1914G>A
ENST00000689668.1:n.1700G>A
ENST00000690876.1:c.1582G>A ENSP00000508955.1:p.Glu528Lys
ENST00000691229.1:c.1582G>A ENSP00000510437.1:p.Glu528Lys
ENST00000692089.1:c.1582G>A ENSP00000508626.1:p.Glu528Lys
ENST00000692620.1:c.460G>A ENSP00000509311.1:p.Glu154Lys
ENST00000402219.8:c.1693G>A MANE Select ENSP00000384675.2:p.Glu565Lys
ENST00000395038.6:c.1693G>A ENSP00000378479.2:p.Glu565Lys
ENST00000402219.6:c.1693G>A ENSP00000384675.2:p.Glu565Lys
ENST00000426016.5:c.1693G>A ENSP00000387784.1:p.Glu565Lys
NM_005633.3:c.1693G>A , LRG_754t1:c.1693G>A NP_005624.2:p.Glu565Lys
XM_005264515.3:c.1693G>A XP_005264572.1:p.Glu565Lys
XM_011533060.1:c.1786G>A XP_011531362.1:p.Glu596Lys
XM_011533061.1:c.1786G>A XP_011531363.1:p.Glu596Lys
XM_011533062.1:c.1672G>A XP_011531364.1:p.Glu558Lys
XM_011533063.1:c.1669G>A XP_011531365.1:p.Glu557Lys
XM_011533064.1:c.1522G>A XP_011531366.1:p.Glu508Lys
XM_011533065.1:c.1786G>A XP_011531367.1:p.Glu596Lys
XM_011533066.1:c.628G>A XP_011531368.1:p.Glu210Lys
XM_005264515.4:c.1693G>A XP_005264572.1:p.Glu565Lys
XM_011533062.2:c.1672G>A XP_011531364.1:p.Glu558Lys
XM_011533064.2:c.1522G>A XP_011531366.1:p.Glu508Lys
NM_001382394.1:c.1672G>A NP_001369323.1:p.Glu558Lys
NM_001382395.1:c.1693G>A NP_001369324.1:p.Glu565Lys
NM_005633.4:c.1693G>A MANE Select NP_005624.2:p.Glu565Lys
Search 100 bp 5'
Search 100 bp 3'