Canonical Allele Identifier: CA1139663471

Gene: SOS2

Linked Data

• ClinVar Variation Id: 928963
• ClinVar RCV Id: RCV001193660
• dbSNP Id: rs1884613778

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50150115_50150159dup , CM000676.2:g.50150115_50150159dup	GRCh38
NC_000014.8:g.50616833_50616877dup , CM000676.1:g.50616833_50616877dup	GRCh37
NC_000014.7:g.49686583_49686627dup	NCBI36
NG_051073.1:g.86536_86580dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2234_2278dup MANE Select	ENSP00000216373.5:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheG...
ENST00000216373.9:c.2234_2278dup	ENSP00000216373.5:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheG...
ENST00000543680.5:c.2135_2179dup	ENSP00000445328.1:p.Ile726_Glu727insGlyValSerHisAsnIleThrPheG...
NM_006939.2:c.2234_2278dup	NP_008870.2:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheGluSerP...
XM_005268021.1:c.2054_2098dup	XP_005268078.1:p.Ile699_Glu700insGlyValSerHisAsnIleThrPheGluS...
XM_011537103.1:c.2195_2239dup	XP_011535405.1:p.Ile746_Glu747insGlyValSerHisAsnIleThrPheGluS...
XM_011537104.1:c.2234_2278dup	XP_011535406.1:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheGluS...
NM_006939.3:c.2234_2278dup	NP_008870.2:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheGluSerP...
NM_006939.4:c.2234_2278dup MANE Select	NP_008870.2:p.Ile759_Glu760insGlyValSerHisAsnIleThrPheGluSerP...