Canonical Allele Identifier: CA425866748
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250021T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022880T>G , CM000664.2:g.39022880T>G GRCh38
NC_000002.11:g.39250021T>G , CM000664.1:g.39250021T>G GRCh37
NC_000002.10:g.39103525T>G NCBI36
NG_007530.1:g.102584A>C , LRG_754:g.102584A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1428A>C
ENST00000685279.1:c.315A>C ENSP00000509424.1:p.Ile105=
ENST00000688043.1:n.1769A>C
ENST00000689668.1:n.1555A>C
ENST00000690876.1:c.1437A>C ENSP00000508955.1:p.Ile479=
ENST00000691229.1:c.1437A>C ENSP00000510437.1:p.Ile479=
ENST00000692089.1:c.1437A>C ENSP00000508626.1:p.Ile479=
ENST00000692620.1:c.315A>C ENSP00000509311.1:p.Ile105=
ENST00000402219.8:c.1548A>C MANE Select ENSP00000384675.2:p.Ile516=
ENST00000395038.6:c.1548A>C ENSP00000378479.2:p.Ile516=
ENST00000402219.6:c.1548A>C ENSP00000384675.2:p.Ile516=
ENST00000426016.5:c.1548A>C ENSP00000387784.1:p.Ile516=
ENST00000472480.1:n.392A>C
NM_005633.3:c.1548A>C , LRG_754t1:c.1548A>C NP_005624.2:p.Ile516=
XM_005264515.3:c.1548A>C XP_005264572.1:p.Ile516=
XM_011533060.1:c.1641A>C XP_011531362.1:p.Ile547=
XM_011533061.1:c.1641A>C XP_011531363.1:p.Ile547=
XM_011533062.1:c.1527A>C XP_011531364.1:p.Ile509=
XM_011533063.1:c.1524A>C XP_011531365.1:p.Ile508=
XM_011533064.1:c.1377A>C XP_011531366.1:p.Ile459=
XM_011533065.1:c.1641A>C XP_011531367.1:p.Ile547=
XM_011533066.1:c.483A>C XP_011531368.1:p.Ile161=
XM_005264515.4:c.1548A>C XP_005264572.1:p.Ile516=
XM_011533062.2:c.1527A>C XP_011531364.1:p.Ile509=
XM_011533064.2:c.1377A>C XP_011531366.1:p.Ile459=
NM_001382394.1:c.1527A>C NP_001369323.1:p.Ile509=
NM_001382395.1:c.1548A>C NP_001369324.1:p.Ile516=
NM_005633.4:c.1548A>C MANE Select NP_005624.2:p.Ile516=