Canonical Allele Identifier: CA425866620

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39249712T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022571T>A , CM000664.2:g.39022571T>A	GRCh38
NC_000002.11:g.39249712T>A , CM000664.1:g.39249712T>A	GRCh37
NC_000002.10:g.39103216T>A	NCBI36
NG_007530.1:g.102893A>T , LRG_754:g.102893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1737A>T
ENST00000685279.1:c.624A>T	ENSP00000509424.1:p.Ala208=
ENST00000688043.1:n.2078A>T
ENST00000689668.1:n.1864A>T
ENST00000690876.1:c.1746A>T	ENSP00000508955.1:p.Ala582=
ENST00000691229.1:c.1746A>T	ENSP00000510437.1:p.Ala582=
ENST00000692089.1:c.1746A>T	ENSP00000508626.1:p.Ala582=
ENST00000692620.1:c.624A>T	ENSP00000509311.1:p.Ala208=
ENST00000402219.8:c.1857A>T MANE Select	ENSP00000384675.2:p.Ala619=
ENST00000395038.6:c.1857A>T	ENSP00000378479.2:p.Ala619=
ENST00000402219.6:c.1857A>T	ENSP00000384675.2:p.Ala619=
ENST00000426016.5:c.1857A>T	ENSP00000387784.1:p.Ala619=
NM_005633.3:c.1857A>T , LRG_754t1:c.1857A>T	NP_005624.2:p.Ala619=
XM_005264515.3:c.1857A>T	XP_005264572.1:p.Ala619=
XM_011533060.1:c.1950A>T	XP_011531362.1:p.Ala650=
XM_011533061.1:c.1950A>T	XP_011531363.1:p.Ala650=
XM_011533062.1:c.1836A>T	XP_011531364.1:p.Ala612=
XM_011533063.1:c.1833A>T	XP_011531365.1:p.Ala611=
XM_011533064.1:c.1686A>T	XP_011531366.1:p.Ala562=
XM_011533065.1:c.1950A>T	XP_011531367.1:p.Ala650=
XM_011533066.1:c.792A>T	XP_011531368.1:p.Ala264=
XM_005264515.4:c.1857A>T	XP_005264572.1:p.Ala619=
XM_011533062.2:c.1836A>T	XP_011531364.1:p.Ala612=
XM_011533064.2:c.1686A>T	XP_011531366.1:p.Ala562=
NM_001382394.1:c.1836A>T	NP_001369323.1:p.Ala612=
NM_001382395.1:c.1857A>T	NP_001369324.1:p.Ala619=
NM_005633.4:c.1857A>T MANE Select	NP_005624.2:p.Ala619=