Canonical Allele Identifier: CA7177456

Gene: SOS2

Linked Data

• ClinVar Variation Id: 509579
• ClinVar RCV Id: RCV000600867 ; RCV000873801 ; RCV002377261
• dbSNP Id: rs373852615
• ExAC: 14:50649319 G / A
• gnomAD v2: 14-50649319-G-A
• gnomAD v3: 14-50182601-G-A
• gnomAD v4: 14-50182601-G-A
• COSMIC: COSM956027 ; COSM956028
• MyVariant Identifiers: chr14:g.50649319G>A (hg19) ; chr14:g.50182601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182601G>A , CM000676.2:g.50182601G>A	GRCh38
NC_000014.8:g.50649319G>A , CM000676.1:g.50649319G>A	GRCh37
NC_000014.7:g.49719069G>A	NCBI36
NG_051073.1:g.54093C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.720C>T MANE Select	ENSP00000216373.5:p.Ile240=
ENST00000216373.9:c.720C>T	ENSP00000216373.5:p.Ile240=
ENST00000543680.5:c.720C>T	ENSP00000445328.1:p.Ile240=
ENST00000556469.5:n.487C>T
NM_006939.2:c.720C>T	NP_008870.2:p.Ile240=
XM_005268021.1:c.540C>T	XP_005268078.1:p.Ile180=
XM_011537103.1:c.681C>T	XP_011535405.1:p.Ile227=
XM_011537104.1:c.720C>T	XP_011535406.1:p.Ile240=
XR_943842.1:n.954-1186G>A
XR_943843.1:n.954-1186G>A
NM_006939.3:c.720C>T	NP_008870.2:p.Ile240=
NM_006939.4:c.720C>T MANE Select	NP_008870.2:p.Ile240=