Canonical Allele Identifier: CA425866742
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs772693927
MyVariant Identifiers: chr2:g.39250000A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022859A>G , CM000664.2:g.39022859A>G GRCh38
NC_000002.11:g.39250000A>G , CM000664.1:g.39250000A>G GRCh37
NC_000002.10:g.39103504A>G NCBI36
NG_007530.1:g.102605T>C , LRG_754:g.102605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1449T>C
ENST00000685279.1:c.336T>C ENSP00000509424.1:p.Ser112=
ENST00000688043.1:n.1790T>C
ENST00000689668.1:n.1576T>C
ENST00000690876.1:c.1458T>C ENSP00000508955.1:p.Ser486=
ENST00000691229.1:c.1458T>C ENSP00000510437.1:p.Ser486=
ENST00000692089.1:c.1458T>C ENSP00000508626.1:p.Ser486=
ENST00000692620.1:c.336T>C ENSP00000509311.1:p.Ser112=
ENST00000402219.8:c.1569T>C MANE Select ENSP00000384675.2:p.Ser523=
ENST00000395038.6:c.1569T>C ENSP00000378479.2:p.Ser523=
ENST00000402219.6:c.1569T>C ENSP00000384675.2:p.Ser523=
ENST00000426016.5:c.1569T>C ENSP00000387784.1:p.Ser523=
NM_005633.3:c.1569T>C , LRG_754t1:c.1569T>C NP_005624.2:p.Ser523=
XM_005264515.3:c.1569T>C XP_005264572.1:p.Ser523=
XM_011533060.1:c.1662T>C XP_011531362.1:p.Ser554=
XM_011533061.1:c.1662T>C XP_011531363.1:p.Ser554=
XM_011533062.1:c.1548T>C XP_011531364.1:p.Ser516=
XM_011533063.1:c.1545T>C XP_011531365.1:p.Ser515=
XM_011533064.1:c.1398T>C XP_011531366.1:p.Ser466=
XM_011533065.1:c.1662T>C XP_011531367.1:p.Ser554=
XM_011533066.1:c.504T>C XP_011531368.1:p.Ser168=
XM_005264515.4:c.1569T>C XP_005264572.1:p.Ser523=
XM_011533062.2:c.1548T>C XP_011531364.1:p.Ser516=
XM_011533064.2:c.1398T>C XP_011531366.1:p.Ser466=
NM_001382394.1:c.1548T>C NP_001369323.1:p.Ser516=
NM_001382395.1:c.1569T>C NP_001369324.1:p.Ser523=
NM_005633.4:c.1569T>C MANE Select NP_005624.2:p.Ser523=
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