Canonical Allele Identifier: CA7177479

Gene: SOS2

Linked Data

• ClinVar Variation Id: 373121
• ClinVar RCV Id: RCV000412844 ; RCV000693191 ; RCV002365451 ; RCV003884517
• dbSNP Id: rs780580623
• ExAC: 14:50655255 C / T
• gnomAD v2: 14-50655255-C-T
• gnomAD v3: 14-50188537-C-T
• gnomAD v4: 14-50188537-C-T
• COSMIC: COSM5007599 ; COSM5007600
• MyVariant Identifiers: chr14:g.50655255C>T (hg19) ; chr14:g.50188537C>T (hg38)
• ERepo: CA7177479/MONDO:0021060/042

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188537C>T , CM000676.2:g.50188537C>T	GRCh38
NC_000014.8:g.50655255C>T , CM000676.1:g.50655255C>T	GRCh37
NC_000014.7:g.49725005C>T	NCBI36
NG_051073.1:g.48157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.674G>A MANE Select	ENSP00000216373.5:p.Arg225Gln
ENST00000216373.9:c.674G>A	ENSP00000216373.5:p.Arg225Gln
ENST00000543680.5:c.674G>A	ENSP00000445328.1:p.Arg225Gln
ENST00000556469.5:n.482-5931G>A
NM_006939.2:c.674G>A	NP_008870.2:p.Arg225Gln
XM_005268021.1:c.494G>A	XP_005268078.1:p.Arg165Gln
XM_011537103.1:c.635G>A	XP_011535405.1:p.Arg212Gln
XM_011537104.1:c.674G>A	XP_011535406.1:p.Arg225Gln
XR_943842.1:n.1039+4665C>T
XR_943843.1:n.1039+4665C>T
NM_006939.3:c.674G>A	NP_008870.2:p.Arg225Gln
NM_006939.4:c.674G>A MANE Select	NP_008870.2:p.Arg225Gln