Canonical Allele Identifier: CA425730244

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39239380G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012239G>T , CM000664.2:g.39012239G>T	GRCh38
NC_000002.11:g.39239380G>T , CM000664.1:g.39239380G>T	GRCh37
NC_000002.10:g.39092884G>T	NCBI36
NG_007530.1:g.113225C>A , LRG_754:g.113225C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000685279.1:c.1044C>A	ENSP00000509424.1:p.Pro348=
ENST00000688043.1:n.3609C>A
ENST00000689668.1:n.2284C>A
ENST00000690514.1:n.366C>A
ENST00000690876.1:c.2166C>A	ENSP00000508955.1:p.Pro722=
ENST00000691229.1:c.2166C>A	ENSP00000510437.1:p.Pro722=
ENST00000692089.1:c.2166C>A	ENSP00000508626.1:p.Pro722=
ENST00000692620.1:c.934+1221C>A	ENSP00000509311.1:n.934+1221C>A
ENST00000402219.8:c.2277C>A MANE Select	ENSP00000384675.2:p.Pro759=
ENST00000395038.6:c.2277C>A	ENSP00000378479.2:p.Pro759=
ENST00000402219.6:c.2277C>A	ENSP00000384675.2:p.Pro759=
ENST00000426016.5:c.2277C>A	ENSP00000387784.1:p.Pro759=
NM_005633.3:c.2277C>A , LRG_754t1:c.2277C>A	NP_005624.2:p.Pro759=
XM_005264515.3:c.2277C>A	XP_005264572.1:p.Pro759=
XM_011533060.1:c.2370C>A	XP_011531362.1:p.Pro790=
XM_011533061.1:c.2370C>A	XP_011531363.1:p.Pro790=
XM_011533062.1:c.2256C>A	XP_011531364.1:p.Pro752=
XM_011533063.1:c.2253C>A	XP_011531365.1:p.Pro751=
XM_011533064.1:c.2106C>A	XP_011531366.1:p.Pro702=
XM_011533065.1:c.2370C>A	XP_011531367.1:p.Pro790=
XM_011533066.1:c.1212C>A	XP_011531368.1:p.Pro404=
XM_005264515.4:c.2277C>A	XP_005264572.1:p.Pro759=
XM_011533062.2:c.2256C>A	XP_011531364.1:p.Pro752=
XM_011533064.2:c.2106C>A	XP_011531366.1:p.Pro702=
NM_001382394.1:c.2256C>A	NP_001369323.1:p.Pro752=
NM_001382395.1:c.2277C>A	NP_001369324.1:p.Pro759=
NM_005633.4:c.2277C>A MANE Select	NP_005624.2:p.Pro759=