Canonical Allele Identifier: CA7177421
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1764152
ClinVar RCV Id: RCV002449625 RCV003099995
dbSNP Id: rs776163318
ExAC: 14:50647395 T / C
gnomAD v2: 14-50647395-T-C
gnomAD v4: 14-50180677-T-C
MyVariant Identifiers: chr14:g.50647395T>C (hg19) chr14:g.50180677T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180677T>C , CM000676.2:g.50180677T>C GRCh38
NC_000014.8:g.50647395T>C , CM000676.1:g.50647395T>C GRCh37
NC_000014.7:g.49717145T>C NCBI36
NG_051073.1:g.56017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.864A>G MANE Select ENSP00000216373.5:p.Gln288=
ENST00000216373.9:c.864A>G ENSP00000216373.5:p.Gln288=
ENST00000543680.5:c.864A>G ENSP00000445328.1:p.Gln288=
NM_006939.2:c.864A>G NP_008870.2:p.Gln288=
XM_005268021.1:c.684A>G XP_005268078.1:p.Gln228=
XM_011537103.1:c.825A>G XP_011535405.1:p.Gln275=
XM_011537104.1:c.864A>G XP_011535406.1:p.Gln288=
XR_943842.1:n.954-3110T>C
XR_943843.1:n.954-3110T>C
NM_006939.3:c.864A>G NP_008870.2:p.Gln288=
NM_006939.4:c.864A>G MANE Select NP_008870.2:p.Gln288=
Search 100 bp 5'
Search 100 bp 3'