Canonical Allele Identifier: CA389646949

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1321417
• ClinVar RCV Id: RCV001779511 ; RCV001885142
• dbSNP Id: rs2139702139
• MyVariant Identifiers: chr14:g.50647315C>T (hg19) ; chr14:g.50180597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180597C>T , CM000676.2:g.50180597C>T	GRCh38
NC_000014.8:g.50647315C>T , CM000676.1:g.50647315C>T	GRCh37
NC_000014.7:g.49717065C>T	NCBI36
NG_051073.1:g.56097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.944G>A MANE Select	ENSP00000216373.5:p.Arg315Lys
ENST00000216373.9:c.944G>A	ENSP00000216373.5:p.Arg315Lys
ENST00000543680.5:c.944G>A	ENSP00000445328.1:p.Arg315Lys
ENST00000555794.2:c.58G>A
NM_006939.2:c.944G>A	NP_008870.2:p.Arg315Lys
XM_005268021.1:c.764G>A	XP_005268078.1:p.Arg255Lys
XM_011537103.1:c.905G>A	XP_011535405.1:p.Arg302Lys
XM_011537104.1:c.944G>A	XP_011535406.1:p.Arg315Lys
XR_943842.1:n.954-3190C>T
XR_943843.1:n.954-3190C>T
NM_006939.3:c.944G>A	NP_008870.2:p.Arg315Lys
NM_006939.4:c.944G>A MANE Select	NP_008870.2:p.Arg315Lys