Canonical Allele Identifier: CA7177419
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2163082
ClinVar RCV Id: RCV003073112
dbSNP Id: rs760242353
ExAC: 14:50647342 T / C
gnomAD v2: 14-50647342-T-C
gnomAD v3: 14-50180624-T-C
gnomAD v4: 14-50180624-T-C
MyVariant Identifiers: chr14:g.50647342T>C (hg19) chr14:g.50180624T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180624T>C , CM000676.2:g.50180624T>C GRCh38
NC_000014.8:g.50647342T>C , CM000676.1:g.50647342T>C GRCh37
NC_000014.7:g.49717092T>C NCBI36
NG_051073.1:g.56070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.917A>G MANE Select ENSP00000216373.5:p.His306Arg
ENST00000216373.9:c.917A>G ENSP00000216373.5:p.His306Arg
ENST00000543680.5:c.917A>G ENSP00000445328.1:p.His306Arg
ENST00000555794.2:c.31A>G
NM_006939.2:c.917A>G NP_008870.2:p.His306Arg
XM_005268021.1:c.737A>G XP_005268078.1:p.His246Arg
XM_011537103.1:c.878A>G XP_011535405.1:p.His293Arg
XM_011537104.1:c.917A>G XP_011535406.1:p.His306Arg
XR_943842.1:n.954-3163T>C
XR_943843.1:n.954-3163T>C
NM_006939.3:c.917A>G NP_008870.2:p.His306Arg
NM_006939.4:c.917A>G MANE Select NP_008870.2:p.His306Arg
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