Canonical Allele Identifier: CA346365280
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249732G>T (hg19) chr2:g.39022591G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022591G>T , CM000664.2:g.39022591G>T GRCh38
NC_000002.11:g.39249732G>T , CM000664.1:g.39249732G>T GRCh37
NC_000002.10:g.39103236G>T NCBI36
NG_007530.1:g.102873C>A , LRG_754:g.102873C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1717C>A
ENST00000685279.1:c.604C>A ENSP00000509424.1:p.Leu202Ile
ENST00000688043.1:n.2058C>A
ENST00000689668.1:n.1844C>A
ENST00000690876.1:c.1726C>A ENSP00000508955.1:p.Leu576Ile
ENST00000691229.1:c.1726C>A ENSP00000510437.1:p.Leu576Ile
ENST00000692089.1:c.1726C>A ENSP00000508626.1:p.Leu576Ile
ENST00000692620.1:c.604C>A ENSP00000509311.1:p.Leu202Ile
ENST00000402219.8:c.1837C>A MANE Select ENSP00000384675.2:p.Leu613Ile
ENST00000395038.6:c.1837C>A ENSP00000378479.2:p.Leu613Ile
ENST00000402219.6:c.1837C>A ENSP00000384675.2:p.Leu613Ile
ENST00000426016.5:c.1837C>A ENSP00000387784.1:p.Leu613Ile
NM_005633.3:c.1837C>A , LRG_754t1:c.1837C>A NP_005624.2:p.Leu613Ile
XM_005264515.3:c.1837C>A XP_005264572.1:p.Leu613Ile
XM_011533060.1:c.1930C>A XP_011531362.1:p.Leu644Ile
XM_011533061.1:c.1930C>A XP_011531363.1:p.Leu644Ile
XM_011533062.1:c.1816C>A XP_011531364.1:p.Leu606Ile
XM_011533063.1:c.1813C>A XP_011531365.1:p.Leu605Ile
XM_011533064.1:c.1666C>A XP_011531366.1:p.Leu556Ile
XM_011533065.1:c.1930C>A XP_011531367.1:p.Leu644Ile
XM_011533066.1:c.772C>A XP_011531368.1:p.Leu258Ile
XM_005264515.4:c.1837C>A XP_005264572.1:p.Leu613Ile
XM_011533062.2:c.1816C>A XP_011531364.1:p.Leu606Ile
XM_011533064.2:c.1666C>A XP_011531366.1:p.Leu556Ile
NM_001382394.1:c.1816C>A NP_001369323.1:p.Leu606Ile
NM_001382395.1:c.1837C>A NP_001369324.1:p.Leu613Ile
NM_005633.4:c.1837C>A MANE Select NP_005624.2:p.Leu613Ile
Search 100 bp 5'
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