Canonical Allele Identifier: CA7177415
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2118251
ClinVar RCV Id: RCV003053577
dbSNP Id: rs779352273
ExAC: 14:50647325 A / G
gnomAD v2: 14-50647325-A-G
gnomAD v4: 14-50180607-A-G
MyVariant Identifiers: chr14:g.50647325A>G (hg19) chr14:g.50180607A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180607A>G , CM000676.2:g.50180607A>G GRCh38
NC_000014.8:g.50647325A>G , CM000676.1:g.50647325A>G GRCh37
NC_000014.7:g.49717075A>G NCBI36
NG_051073.1:g.56087T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.934T>C MANE Select ENSP00000216373.5:p.Leu312=
ENST00000216373.9:c.934T>C ENSP00000216373.5:p.Leu312=
ENST00000543680.5:c.934T>C ENSP00000445328.1:p.Leu312=
ENST00000555794.2:c.48T>C
NM_006939.2:c.934T>C NP_008870.2:p.Leu312=
XM_005268021.1:c.754T>C XP_005268078.1:p.Leu252=
XM_011537103.1:c.895T>C XP_011535405.1:p.Leu299=
XM_011537104.1:c.934T>C XP_011535406.1:p.Leu312=
XR_943842.1:n.954-3180A>G
XR_943843.1:n.954-3180A>G
NM_006939.3:c.934T>C NP_008870.2:p.Leu312=
NM_006939.4:c.934T>C MANE Select NP_008870.2:p.Leu312=
Search 100 bp 5'
Search 100 bp 3'