Canonical Allele Identifier: CA16021010

Gene: SOS2

Linked Data

• ClinVar Variation Id: 373114
• ClinVar RCV Id: RCV000414175 ; RCV001250768
• dbSNP Id: rs797045167
• COSMIC: COSM1748863 ; COSM1748864
• MyVariant Identifiers: chr14:g.50649239A>G (hg19) ; chr14:g.50182521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182521A>G , CM000676.2:g.50182521A>G	GRCh38
NC_000014.8:g.50649239A>G , CM000676.1:g.50649239A>G	GRCh37
NC_000014.7:g.49718989A>G	NCBI36
NG_051073.1:g.54173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.800T>C MANE Select	ENSP00000216373.5:p.Met267Thr
ENST00000216373.9:c.800T>C	ENSP00000216373.5:p.Met267Thr
ENST00000543680.5:c.800T>C	ENSP00000445328.1:p.Met267Thr
ENST00000556469.5:n.567T>C
NM_006939.2:c.800T>C	NP_008870.2:p.Met267Thr
XM_005268021.1:c.620T>C	XP_005268078.1:p.Met207Thr
XM_011537103.1:c.761T>C	XP_011535405.1:p.Met254Thr
XM_011537104.1:c.800T>C	XP_011535406.1:p.Met267Thr
XR_943842.1:n.954-1266A>G
XR_943843.1:n.954-1266A>G
NM_006939.3:c.800T>C	NP_008870.2:p.Met267Thr
NM_006939.4:c.800T>C MANE Select	NP_008870.2:p.Met267Thr