Canonical Allele Identifier: CA346365400

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39249790C>G (hg19) ; chr2:g.39022649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022649C>G , CM000664.2:g.39022649C>G	GRCh38
NC_000002.11:g.39249790C>G , CM000664.1:g.39249790C>G	GRCh37
NC_000002.10:g.39103294C>G	NCBI36
NG_007530.1:g.102815G>C , LRG_754:g.102815G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1659G>C
ENST00000685279.1:c.546G>C	ENSP00000509424.1:p.Gln182His
ENST00000688043.1:n.2000G>C
ENST00000689668.1:n.1786G>C
ENST00000690876.1:c.1668G>C	ENSP00000508955.1:p.Gln556His
ENST00000691229.1:c.1668G>C	ENSP00000510437.1:p.Gln556His
ENST00000692089.1:c.1668G>C	ENSP00000508626.1:p.Gln556His
ENST00000692620.1:c.546G>C	ENSP00000509311.1:p.Gln182His
ENST00000402219.8:c.1779G>C MANE Select	ENSP00000384675.2:p.Gln593His
ENST00000395038.6:c.1779G>C	ENSP00000378479.2:p.Gln593His
ENST00000402219.6:c.1779G>C	ENSP00000384675.2:p.Gln593His
ENST00000426016.5:c.1779G>C	ENSP00000387784.1:p.Gln593His
NM_005633.3:c.1779G>C , LRG_754t1:c.1779G>C	NP_005624.2:p.Gln593His
XM_005264515.3:c.1779G>C	XP_005264572.1:p.Gln593His
XM_011533060.1:c.1872G>C	XP_011531362.1:p.Gln624His
XM_011533061.1:c.1872G>C	XP_011531363.1:p.Gln624His
XM_011533062.1:c.1758G>C	XP_011531364.1:p.Gln586His
XM_011533063.1:c.1755G>C	XP_011531365.1:p.Gln585His
XM_011533064.1:c.1608G>C	XP_011531366.1:p.Gln536His
XM_011533065.1:c.1872G>C	XP_011531367.1:p.Gln624His
XM_011533066.1:c.714G>C	XP_011531368.1:p.Gln238His
XM_005264515.4:c.1779G>C	XP_005264572.1:p.Gln593His
XM_011533062.2:c.1758G>C	XP_011531364.1:p.Gln586His
XM_011533064.2:c.1608G>C	XP_011531366.1:p.Gln536His
NM_001382394.1:c.1758G>C	NP_001369323.1:p.Gln586His
NM_001382395.1:c.1779G>C	NP_001369324.1:p.Gln593His
NM_005633.4:c.1779G>C MANE Select	NP_005624.2:p.Gln593His