Canonical Allele Identifier: CA389649720

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1735426
• ClinVar RCV Id: RCV002355440
• MyVariant Identifiers: chr14:g.50666536A>T (hg19) ; chr14:g.50199818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199818A>T , CM000676.2:g.50199818A>T	GRCh38
NC_000014.8:g.50666536A>T , CM000676.1:g.50666536A>T	GRCh37
NC_000014.7:g.49736286A>T	NCBI36
NG_051073.1:g.36876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.383T>A MANE Select	ENSP00000216373.5:p.Leu128Gln
ENST00000216373.9:c.383T>A	ENSP00000216373.5:p.Leu128Gln
ENST00000543680.5:c.383T>A	ENSP00000445328.1:p.Leu128Gln
ENST00000555666.1:n.562T>A
ENST00000556469.5:n.354T>A
NM_006939.2:c.383T>A	NP_008870.2:p.Leu128Gln
XM_005268021.1:c.203T>A	XP_005268078.1:p.Leu68Gln
XM_011537103.1:c.344T>A	XP_011535405.1:p.Leu115Gln
XM_011537104.1:c.383T>A	XP_011535406.1:p.Leu128Gln
XR_943842.1:n.1039+15946A>T
XR_943843.1:n.1039+15946A>T
NM_006939.3:c.383T>A	NP_008870.2:p.Leu128Gln
NM_006939.4:c.383T>A MANE Select	NP_008870.2:p.Leu128Gln