Canonical Allele Identifier: CA346365360

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39249770A>G (hg19) ; chr2:g.39022629A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022629A>G , CM000664.2:g.39022629A>G	GRCh38
NC_000002.11:g.39249770A>G , CM000664.1:g.39249770A>G	GRCh37
NC_000002.10:g.39103274A>G	NCBI36
NG_007530.1:g.102835T>C , LRG_754:g.102835T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1679T>C
ENST00000685279.1:c.566T>C	ENSP00000509424.1:p.Ile189Thr
ENST00000688043.1:n.2020T>C
ENST00000689668.1:n.1806T>C
ENST00000690876.1:c.1688T>C	ENSP00000508955.1:p.Ile563Thr
ENST00000691229.1:c.1688T>C	ENSP00000510437.1:p.Ile563Thr
ENST00000692089.1:c.1688T>C	ENSP00000508626.1:p.Ile563Thr
ENST00000692620.1:c.566T>C	ENSP00000509311.1:p.Ile189Thr
ENST00000402219.8:c.1799T>C MANE Select	ENSP00000384675.2:p.Ile600Thr
ENST00000395038.6:c.1799T>C	ENSP00000378479.2:p.Ile600Thr
ENST00000402219.6:c.1799T>C	ENSP00000384675.2:p.Ile600Thr
ENST00000426016.5:c.1799T>C	ENSP00000387784.1:p.Ile600Thr
NM_005633.3:c.1799T>C , LRG_754t1:c.1799T>C	NP_005624.2:p.Ile600Thr
XM_005264515.3:c.1799T>C	XP_005264572.1:p.Ile600Thr
XM_011533060.1:c.1892T>C	XP_011531362.1:p.Ile631Thr
XM_011533061.1:c.1892T>C	XP_011531363.1:p.Ile631Thr
XM_011533062.1:c.1778T>C	XP_011531364.1:p.Ile593Thr
XM_011533063.1:c.1775T>C	XP_011531365.1:p.Ile592Thr
XM_011533064.1:c.1628T>C	XP_011531366.1:p.Ile543Thr
XM_011533065.1:c.1892T>C	XP_011531367.1:p.Ile631Thr
XM_011533066.1:c.734T>C	XP_011531368.1:p.Ile245Thr
XM_005264515.4:c.1799T>C	XP_005264572.1:p.Ile600Thr
XM_011533062.2:c.1778T>C	XP_011531364.1:p.Ile593Thr
XM_011533064.2:c.1628T>C	XP_011531366.1:p.Ile543Thr
NM_001382394.1:c.1778T>C	NP_001369323.1:p.Ile593Thr
NM_001382395.1:c.1799T>C	NP_001369324.1:p.Ile600Thr
NM_005633.4:c.1799T>C MANE Select	NP_005624.2:p.Ile600Thr