Canonical Allele Identifier: CA346365816
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2575549
ClinVar RCV Id: RCV003321115
gnomAD v4: 2-39022834-C-T
MyVariant Identifiers: chr2:g.39249975C>T (hg19) chr2:g.39022834C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022834C>T , CM000664.2:g.39022834C>T GRCh38
NC_000002.11:g.39249975C>T , CM000664.1:g.39249975C>T GRCh37
NC_000002.10:g.39103479C>T NCBI36
NG_007530.1:g.102630G>A , LRG_754:g.102630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1474G>A
ENST00000685279.1:c.361G>A ENSP00000509424.1:p.Glu121Lys
ENST00000688043.1:n.1815G>A
ENST00000689668.1:n.1601G>A
ENST00000690876.1:c.1483G>A ENSP00000508955.1:p.Glu495Lys
ENST00000691229.1:c.1483G>A ENSP00000510437.1:p.Glu495Lys
ENST00000692089.1:c.1483G>A ENSP00000508626.1:p.Glu495Lys
ENST00000692620.1:c.361G>A ENSP00000509311.1:p.Glu121Lys
ENST00000402219.8:c.1594G>A MANE Select ENSP00000384675.2:p.Glu532Lys
ENST00000395038.6:c.1594G>A ENSP00000378479.2:p.Glu532Lys
ENST00000402219.6:c.1594G>A ENSP00000384675.2:p.Glu532Lys
ENST00000426016.5:c.1594G>A ENSP00000387784.1:p.Glu532Lys
NM_005633.3:c.1594G>A , LRG_754t1:c.1594G>A NP_005624.2:p.Glu532Lys
XM_005264515.3:c.1594G>A XP_005264572.1:p.Glu532Lys
XM_011533060.1:c.1687G>A XP_011531362.1:p.Glu563Lys
XM_011533061.1:c.1687G>A XP_011531363.1:p.Glu563Lys
XM_011533062.1:c.1573G>A XP_011531364.1:p.Glu525Lys
XM_011533063.1:c.1570G>A XP_011531365.1:p.Glu524Lys
XM_011533064.1:c.1423G>A XP_011531366.1:p.Glu475Lys
XM_011533065.1:c.1687G>A XP_011531367.1:p.Glu563Lys
XM_011533066.1:c.529G>A XP_011531368.1:p.Glu177Lys
XM_005264515.4:c.1594G>A XP_005264572.1:p.Glu532Lys
XM_011533062.2:c.1573G>A XP_011531364.1:p.Glu525Lys
XM_011533064.2:c.1423G>A XP_011531366.1:p.Glu475Lys
NM_001382394.1:c.1573G>A NP_001369323.1:p.Glu525Lys
NM_001382395.1:c.1594G>A NP_001369324.1:p.Glu532Lys
NM_005633.4:c.1594G>A MANE Select NP_005624.2:p.Glu532Lys
Search 100 bp 5'
Search 100 bp 3'