Canonical Allele Identifier: CA204984
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209092
ClinVar RCV Id: RCV000191031 RCV003320592
dbSNP Id: rs797045167
COSMIC: COSM5586650 COSM5586651
MyVariant Identifiers: chr14:g.50649239A>T (hg19) chr14:g.50182521A>T (hg38)
PubMed: PMID:25795793
ERepo: CA204984/MONDO:0021060/042
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.800T>A MANE Select ENSP00000216373.5:p.Met267Lys
ENST00000216373.9:c.800T>A ENSP00000216373.5:p.Met267Lys
ENST00000543680.5:c.800T>A ENSP00000445328.1:p.Met267Lys
ENST00000556469.5:n.567T>A
NM_006939.2:c.800T>A NP_008870.2:p.Met267Lys
XM_005268021.1:c.620T>A XP_005268078.1:p.Met207Lys
XM_011537103.1:c.761T>A XP_011535405.1:p.Met254Lys
XM_011537104.1:c.800T>A XP_011535406.1:p.Met267Lys
XR_943842.1:n.954-1266A>T
XR_943843.1:n.954-1266A>T
NM_006939.3:c.800T>A NP_008870.2:p.Met267Lys
NM_006939.4:c.800T>A MANE Select NP_008870.2:p.Met267Lys
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