Canonical Allele Identifier: CA425866920

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2023283
• ClinVar RCV Id: RCV002857833
• MyVariant Identifiers: chr2:g.39250330C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023189C>T , CM000664.2:g.39023189C>T	GRCh38
NC_000002.11:g.39250330C>T , CM000664.1:g.39250330C>T	GRCh37
NC_000002.10:g.39103834C>T	NCBI36
NG_007530.1:g.102275G>A , LRG_754:g.102275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1119G>A
ENST00000685279.1:c.6G>A	ENSP00000509424.1:p.Lys2=
ENST00000688043.1:n.1460G>A
ENST00000689668.1:n.1246G>A
ENST00000690679.1:c.1426G>A
ENST00000690876.1:c.1128G>A	ENSP00000508955.1:p.Lys376=
ENST00000691229.1:c.1128G>A	ENSP00000510437.1:p.Lys376=
ENST00000692089.1:c.1128G>A	ENSP00000508626.1:p.Lys376=
ENST00000692620.1:c.6G>A	ENSP00000509311.1:p.Lys2=
ENST00000402219.8:c.1239G>A MANE Select	ENSP00000384675.2:p.Lys413=
ENST00000395038.6:c.1239G>A	ENSP00000378479.2:p.Lys413=
ENST00000402219.6:c.1239G>A	ENSP00000384675.2:p.Lys413=
ENST00000426016.5:c.1239G>A	ENSP00000387784.1:p.Lys413=
ENST00000472480.1:n.83G>A
NM_005633.3:c.1239G>A , LRG_754t1:c.1239G>A	NP_005624.2:p.Lys413=
XM_005264515.3:c.1239G>A	XP_005264572.1:p.Lys413=
XM_011533060.1:c.1332G>A	XP_011531362.1:p.Lys444=
XM_011533061.1:c.1332G>A	XP_011531363.1:p.Lys444=
XM_011533062.1:c.1218G>A	XP_011531364.1:p.Lys406=
XM_011533063.1:c.1215G>A	XP_011531365.1:p.Lys405=
XM_011533064.1:c.1068G>A	XP_011531366.1:p.Lys356=
XM_011533065.1:c.1332G>A	XP_011531367.1:p.Lys444=
XM_011533066.1:c.174G>A	XP_011531368.1:p.Lys58=
XM_005264515.4:c.1239G>A	XP_005264572.1:p.Lys413=
XM_011533062.2:c.1218G>A	XP_011531364.1:p.Lys406=
XM_011533064.2:c.1068G>A	XP_011531366.1:p.Lys356=
NM_001382394.1:c.1218G>A	NP_001369323.1:p.Lys406=
NM_001382395.1:c.1239G>A	NP_001369324.1:p.Lys413=
NM_005633.4:c.1239G>A MANE Select	NP_005624.2:p.Lys413=