Canonical Allele Identifier: CA346365343
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249762C>T (hg19) chr2:g.39022621C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022621C>T , CM000664.2:g.39022621C>T GRCh38
NC_000002.11:g.39249762C>T , CM000664.1:g.39249762C>T GRCh37
NC_000002.10:g.39103266C>T NCBI36
NG_007530.1:g.102843G>A , LRG_754:g.102843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1687G>A
ENST00000685279.1:c.574G>A ENSP00000509424.1:p.Ala192Thr
ENST00000688043.1:n.2028G>A
ENST00000689668.1:n.1814G>A
ENST00000690876.1:c.1696G>A ENSP00000508955.1:p.Ala566Thr
ENST00000691229.1:c.1696G>A ENSP00000510437.1:p.Ala566Thr
ENST00000692089.1:c.1696G>A ENSP00000508626.1:p.Ala566Thr
ENST00000692620.1:c.574G>A ENSP00000509311.1:p.Ala192Thr
ENST00000402219.8:c.1807G>A MANE Select ENSP00000384675.2:p.Ala603Thr
ENST00000395038.6:c.1807G>A ENSP00000378479.2:p.Ala603Thr
ENST00000402219.6:c.1807G>A ENSP00000384675.2:p.Ala603Thr
ENST00000426016.5:c.1807G>A ENSP00000387784.1:p.Ala603Thr
NM_005633.3:c.1807G>A , LRG_754t1:c.1807G>A NP_005624.2:p.Ala603Thr
XM_005264515.3:c.1807G>A XP_005264572.1:p.Ala603Thr
XM_011533060.1:c.1900G>A XP_011531362.1:p.Ala634Thr
XM_011533061.1:c.1900G>A XP_011531363.1:p.Ala634Thr
XM_011533062.1:c.1786G>A XP_011531364.1:p.Ala596Thr
XM_011533063.1:c.1783G>A XP_011531365.1:p.Ala595Thr
XM_011533064.1:c.1636G>A XP_011531366.1:p.Ala546Thr
XM_011533065.1:c.1900G>A XP_011531367.1:p.Ala634Thr
XM_011533066.1:c.742G>A XP_011531368.1:p.Ala248Thr
XM_005264515.4:c.1807G>A XP_005264572.1:p.Ala603Thr
XM_011533062.2:c.1786G>A XP_011531364.1:p.Ala596Thr
XM_011533064.2:c.1636G>A XP_011531366.1:p.Ala546Thr
NM_001382394.1:c.1786G>A NP_001369323.1:p.Ala596Thr
NM_001382395.1:c.1807G>A NP_001369324.1:p.Ala603Thr
NM_005633.4:c.1807G>A MANE Select NP_005624.2:p.Ala603Thr
Search 100 bp 5'
Search 100 bp 3'