Canonical Allele Identifier: CA425866828
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250180G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023039G>T , CM000664.2:g.39023039G>T GRCh38
NC_000002.11:g.39250180G>T , CM000664.1:g.39250180G>T GRCh37
NC_000002.10:g.39103684G>T NCBI36
NG_007530.1:g.102425C>A , LRG_754:g.102425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1269C>A
ENST00000685279.1:c.156C>A ENSP00000509424.1:p.Leu52=
ENST00000688043.1:n.1610C>A
ENST00000689668.1:n.1396C>A
ENST00000690876.1:c.1278C>A ENSP00000508955.1:p.Leu426=
ENST00000691229.1:c.1278C>A ENSP00000510437.1:p.Leu426=
ENST00000692089.1:c.1278C>A ENSP00000508626.1:p.Leu426=
ENST00000692620.1:c.156C>A ENSP00000509311.1:p.Leu52=
ENST00000402219.8:c.1389C>A MANE Select ENSP00000384675.2:p.Leu463=
ENST00000395038.6:c.1389C>A ENSP00000378479.2:p.Leu463=
ENST00000402219.6:c.1389C>A ENSP00000384675.2:p.Leu463=
ENST00000426016.5:c.1389C>A ENSP00000387784.1:p.Leu463=
ENST00000472480.1:n.233C>A
NM_005633.3:c.1389C>A , LRG_754t1:c.1389C>A NP_005624.2:p.Leu463=
XM_005264515.3:c.1389C>A XP_005264572.1:p.Leu463=
XM_011533060.1:c.1482C>A XP_011531362.1:p.Leu494=
XM_011533061.1:c.1482C>A XP_011531363.1:p.Leu494=
XM_011533062.1:c.1368C>A XP_011531364.1:p.Leu456=
XM_011533063.1:c.1365C>A XP_011531365.1:p.Leu455=
XM_011533064.1:c.1218C>A XP_011531366.1:p.Leu406=
XM_011533065.1:c.1482C>A XP_011531367.1:p.Leu494=
XM_011533066.1:c.324C>A XP_011531368.1:p.Leu108=
XM_005264515.4:c.1389C>A XP_005264572.1:p.Leu463=
XM_011533062.2:c.1368C>A XP_011531364.1:p.Leu456=
XM_011533064.2:c.1218C>A XP_011531366.1:p.Leu406=
NM_001382394.1:c.1368C>A NP_001369323.1:p.Leu456=
NM_001382395.1:c.1389C>A NP_001369324.1:p.Leu463=
NM_005633.4:c.1389C>A MANE Select NP_005624.2:p.Leu463=
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