Canonical Allele Identifier: CA2580088165

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2033839
• ClinVar RCV Id: RCV002885299

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118470_50118471del , CM000676.2:g.50118470_50118471del	GRCh38
NC_000014.8:g.50585188_50585189del , CM000676.1:g.50585188_50585189del	GRCh37
NC_000014.7:g.49654938_49654939del	NCBI36
NG_051073.1:g.118223_118224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3872_3873del MANE Select	ENSP00000216373.5:p.Pro1291ArgfsTer?
ENST00000216373.9:c.3872_3873del	ENSP00000216373.5:p.Pro1291ArgfsTer?
ENST00000543680.5:c.3773_3774del	ENSP00000445328.1:p.Pro1258ArgfsTer?
NM_006939.2:c.3872_3873del	NP_008870.2:p.Pro1291ArgfsTer?
XM_005268021.1:c.3692_3693del	XP_005268078.1:p.Pro1231ArgfsTer?
XM_011537103.1:c.3833_3834del	XP_011535405.1:p.Pro1278ArgfsTer?
NM_006939.3:c.3872_3873del	NP_008870.2:p.Pro1291ArgfsTer?
NM_006939.4:c.3872_3873del MANE Select	NP_008870.2:p.Pro1291ArgfsTer?