Canonical Allele Identifier: CA346366213
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250151G>T (hg19) chr2:g.39023010G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023010G>T , CM000664.2:g.39023010G>T GRCh38
NC_000002.11:g.39250151G>T , CM000664.1:g.39250151G>T GRCh37
NC_000002.10:g.39103655G>T NCBI36
NG_007530.1:g.102454C>A , LRG_754:g.102454C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1298C>A
ENST00000685279.1:c.185C>A ENSP00000509424.1:p.Ser62Ter
ENST00000688043.1:n.1639C>A
ENST00000689668.1:n.1425C>A
ENST00000690876.1:c.1307C>A ENSP00000508955.1:p.Ser436Ter
ENST00000691229.1:c.1307C>A ENSP00000510437.1:p.Ser436Ter
ENST00000692089.1:c.1307C>A ENSP00000508626.1:p.Ser436Ter
ENST00000692620.1:c.185C>A ENSP00000509311.1:p.Ser62Ter
ENST00000402219.8:c.1418C>A MANE Select ENSP00000384675.2:p.Ser473Ter
ENST00000395038.6:c.1418C>A ENSP00000378479.2:p.Ser473Ter
ENST00000402219.6:c.1418C>A ENSP00000384675.2:p.Ser473Ter
ENST00000426016.5:c.1418C>A ENSP00000387784.1:p.Ser473Ter
ENST00000472480.1:n.262C>A
NM_005633.3:c.1418C>A , LRG_754t1:c.1418C>A NP_005624.2:p.Ser473Ter
XM_005264515.3:c.1418C>A XP_005264572.1:p.Ser473Ter
XM_011533060.1:c.1511C>A XP_011531362.1:p.Ser504Ter
XM_011533061.1:c.1511C>A XP_011531363.1:p.Ser504Ter
XM_011533062.1:c.1397C>A XP_011531364.1:p.Ser466Ter
XM_011533063.1:c.1394C>A XP_011531365.1:p.Ser465Ter
XM_011533064.1:c.1247C>A XP_011531366.1:p.Ser416Ter
XM_011533065.1:c.1511C>A XP_011531367.1:p.Ser504Ter
XM_011533066.1:c.353C>A XP_011531368.1:p.Ser118Ter
XM_005264515.4:c.1418C>A XP_005264572.1:p.Ser473Ter
XM_011533062.2:c.1397C>A XP_011531364.1:p.Ser466Ter
XM_011533064.2:c.1247C>A XP_011531366.1:p.Ser416Ter
NM_001382394.1:c.1397C>A NP_001369323.1:p.Ser466Ter
NM_001382395.1:c.1418C>A NP_001369324.1:p.Ser473Ter
NM_005633.4:c.1418C>A MANE Select NP_005624.2:p.Ser473Ter
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