Canonical Allele Identifier: CA346365866
Gene: SOS1 HGNC NCBI

Linked Data

COSMIC: COSM5652928
MyVariant Identifiers: chr2:g.39249999C>A (hg19) chr2:g.39022858C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022858C>A , CM000664.2:g.39022858C>A GRCh38
NC_000002.11:g.39249999C>A , CM000664.1:g.39249999C>A GRCh37
NC_000002.10:g.39103503C>A NCBI36
NG_007530.1:g.102606G>T , LRG_754:g.102606G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1450G>T
ENST00000685279.1:c.337G>T ENSP00000509424.1:p.Val113Phe
ENST00000688043.1:n.1791G>T
ENST00000689668.1:n.1577G>T
ENST00000690876.1:c.1459G>T ENSP00000508955.1:p.Val487Phe
ENST00000691229.1:c.1459G>T ENSP00000510437.1:p.Val487Phe
ENST00000692089.1:c.1459G>T ENSP00000508626.1:p.Val487Phe
ENST00000692620.1:c.337G>T ENSP00000509311.1:p.Val113Phe
ENST00000402219.8:c.1570G>T MANE Select ENSP00000384675.2:p.Val524Phe
ENST00000395038.6:c.1570G>T ENSP00000378479.2:p.Val524Phe
ENST00000402219.6:c.1570G>T ENSP00000384675.2:p.Val524Phe
ENST00000426016.5:c.1570G>T ENSP00000387784.1:p.Val524Phe
NM_005633.3:c.1570G>T , LRG_754t1:c.1570G>T NP_005624.2:p.Val524Phe
XM_005264515.3:c.1570G>T XP_005264572.1:p.Val524Phe
XM_011533060.1:c.1663G>T XP_011531362.1:p.Val555Phe
XM_011533061.1:c.1663G>T XP_011531363.1:p.Val555Phe
XM_011533062.1:c.1549G>T XP_011531364.1:p.Val517Phe
XM_011533063.1:c.1546G>T XP_011531365.1:p.Val516Phe
XM_011533064.1:c.1399G>T XP_011531366.1:p.Val467Phe
XM_011533065.1:c.1663G>T XP_011531367.1:p.Val555Phe
XM_011533066.1:c.505G>T XP_011531368.1:p.Val169Phe
XM_005264515.4:c.1570G>T XP_005264572.1:p.Val524Phe
XM_011533062.2:c.1549G>T XP_011531364.1:p.Val517Phe
XM_011533064.2:c.1399G>T XP_011531366.1:p.Val467Phe
NM_001382394.1:c.1549G>T NP_001369323.1:p.Val517Phe
NM_001382395.1:c.1570G>T NP_001369324.1:p.Val524Phe
NM_005633.4:c.1570G>T MANE Select NP_005624.2:p.Val524Phe
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