Canonical Allele Identifier: CA389646978
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1947234
ClinVar RCV Id: RCV002685447
dbSNP Id: rs2139702224

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180609T>G , CM000676.2:g.50180609T>G GRCh38
NC_000014.8:g.50647327T>G , CM000676.1:g.50647327T>G GRCh37
NC_000014.7:g.49717077T>G NCBI36
NG_051073.1:g.56085A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.932A>C MANE Select ENSP00000216373.5:p.Lys311Thr
ENST00000216373.9:c.932A>C ENSP00000216373.5:p.Lys311Thr
ENST00000543680.5:c.932A>C ENSP00000445328.1:p.Lys311Thr
ENST00000555794.2:c.46A>C
NM_006939.2:c.932A>C NP_008870.2:p.Lys311Thr
XM_005268021.1:c.752A>C XP_005268078.1:p.Lys251Thr
XM_011537103.1:c.893A>C XP_011535405.1:p.Lys298Thr
XM_011537104.1:c.932A>C XP_011535406.1:p.Lys311Thr
XR_943842.1:n.954-3178T>G
XR_943843.1:n.954-3178T>G
NM_006939.3:c.932A>C NP_008870.2:p.Lys311Thr
NM_006939.4:c.932A>C MANE Select NP_008870.2:p.Lys311Thr