Canonical Allele Identifier: CA346366314

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250193C>A (hg19) ; chr2:g.39023052C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023052C>A , CM000664.2:g.39023052C>A	GRCh38
NC_000002.11:g.39250193C>A , CM000664.1:g.39250193C>A	GRCh37
NC_000002.10:g.39103697C>A	NCBI36
NG_007530.1:g.102412G>T , LRG_754:g.102412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1256G>T
ENST00000685279.1:c.143G>T	ENSP00000509424.1:p.Arg48Ile
ENST00000688043.1:n.1597G>T
ENST00000689668.1:n.1383G>T
ENST00000690876.1:c.1265G>T	ENSP00000508955.1:p.Arg422Ile
ENST00000691229.1:c.1265G>T	ENSP00000510437.1:p.Arg422Ile
ENST00000692089.1:c.1265G>T	ENSP00000508626.1:p.Arg422Ile
ENST00000692620.1:c.143G>T	ENSP00000509311.1:p.Arg48Ile
ENST00000402219.8:c.1376G>T MANE Select	ENSP00000384675.2:p.Arg459Ile
ENST00000395038.6:c.1376G>T	ENSP00000378479.2:p.Arg459Ile
ENST00000402219.6:c.1376G>T	ENSP00000384675.2:p.Arg459Ile
ENST00000426016.5:c.1376G>T	ENSP00000387784.1:p.Arg459Ile
ENST00000472480.1:n.220G>T
NM_005633.3:c.1376G>T , LRG_754t1:c.1376G>T	NP_005624.2:p.Arg459Ile
XM_005264515.3:c.1376G>T	XP_005264572.1:p.Arg459Ile
XM_011533060.1:c.1469G>T	XP_011531362.1:p.Arg490Ile
XM_011533061.1:c.1469G>T	XP_011531363.1:p.Arg490Ile
XM_011533062.1:c.1355G>T	XP_011531364.1:p.Arg452Ile
XM_011533063.1:c.1352G>T	XP_011531365.1:p.Arg451Ile
XM_011533064.1:c.1205G>T	XP_011531366.1:p.Arg402Ile
XM_011533065.1:c.1469G>T	XP_011531367.1:p.Arg490Ile
XM_011533066.1:c.311G>T	XP_011531368.1:p.Arg104Ile
XM_005264515.4:c.1376G>T	XP_005264572.1:p.Arg459Ile
XM_011533062.2:c.1355G>T	XP_011531364.1:p.Arg452Ile
XM_011533064.2:c.1205G>T	XP_011531366.1:p.Arg402Ile
NM_001382394.1:c.1355G>T	NP_001369323.1:p.Arg452Ile
NM_001382395.1:c.1376G>T	NP_001369324.1:p.Arg459Ile
NM_005633.4:c.1376G>T MANE Select	NP_005624.2:p.Arg459Ile