Canonical Allele Identifier: CA346365575
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249866C>G (hg19) chr2:g.39022725C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022725C>G , CM000664.2:g.39022725C>G GRCh38
NC_000002.11:g.39249866C>G , CM000664.1:g.39249866C>G GRCh37
NC_000002.10:g.39103370C>G NCBI36
NG_007530.1:g.102739G>C , LRG_754:g.102739G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1583G>C
ENST00000685279.1:c.470G>C ENSP00000509424.1:p.Arg157Thr
ENST00000688043.1:n.1924G>C
ENST00000689668.1:n.1710G>C
ENST00000690876.1:c.1592G>C ENSP00000508955.1:p.Arg531Thr
ENST00000691229.1:c.1592G>C ENSP00000510437.1:p.Arg531Thr
ENST00000692089.1:c.1592G>C ENSP00000508626.1:p.Arg531Thr
ENST00000692620.1:c.470G>C ENSP00000509311.1:p.Arg157Thr
ENST00000402219.8:c.1703G>C MANE Select ENSP00000384675.2:p.Arg568Thr
ENST00000395038.6:c.1703G>C ENSP00000378479.2:p.Arg568Thr
ENST00000402219.6:c.1703G>C ENSP00000384675.2:p.Arg568Thr
ENST00000426016.5:c.1703G>C ENSP00000387784.1:p.Arg568Thr
NM_005633.3:c.1703G>C , LRG_754t1:c.1703G>C NP_005624.2:p.Arg568Thr
XM_005264515.3:c.1703G>C XP_005264572.1:p.Arg568Thr
XM_011533060.1:c.1796G>C XP_011531362.1:p.Arg599Thr
XM_011533061.1:c.1796G>C XP_011531363.1:p.Arg599Thr
XM_011533062.1:c.1682G>C XP_011531364.1:p.Arg561Thr
XM_011533063.1:c.1679G>C XP_011531365.1:p.Arg560Thr
XM_011533064.1:c.1532G>C XP_011531366.1:p.Arg511Thr
XM_011533065.1:c.1796G>C XP_011531367.1:p.Arg599Thr
XM_011533066.1:c.638G>C XP_011531368.1:p.Arg213Thr
XM_005264515.4:c.1703G>C XP_005264572.1:p.Arg568Thr
XM_011533062.2:c.1682G>C XP_011531364.1:p.Arg561Thr
XM_011533064.2:c.1532G>C XP_011531366.1:p.Arg511Thr
NM_001382394.1:c.1682G>C NP_001369323.1:p.Arg561Thr
NM_001382395.1:c.1703G>C NP_001369324.1:p.Arg568Thr
NM_005633.4:c.1703G>C MANE Select NP_005624.2:p.Arg568Thr
Search 100 bp 5'
Search 100 bp 3'