Canonical Allele Identifier: CA486175139
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942468
ClinVar RCV Id: RCV002675893
dbSNP Id: rs1178645846
gnomAD v4: 14-50153125-A-G
MyVariant Identifiers: chr14:g.50619843A>G (hg19) chr14:g.50153125A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153125A>G , CM000676.2:g.50153125A>G GRCh38
NC_000014.8:g.50619843A>G , CM000676.1:g.50619843A>G GRCh37
NC_000014.7:g.49689593A>G NCBI36
NG_051073.1:g.83569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.2106T>C MANE Select ENSP00000216373.5:p.Phe702=
ENST00000216373.9:c.2106T>C ENSP00000216373.5:p.Phe702=
ENST00000543680.5:c.2007T>C ENSP00000445328.1:p.Phe669=
NM_006939.2:c.2106T>C NP_008870.2:p.Phe702=
XM_005268021.1:c.1926T>C XP_005268078.1:p.Phe642=
XM_011537103.1:c.2067T>C XP_011535405.1:p.Phe689=
XM_011537104.1:c.2106T>C XP_011535406.1:p.Phe702=
NM_006939.3:c.2106T>C NP_008870.2:p.Phe702=
NM_006939.4:c.2106T>C MANE Select NP_008870.2:p.Phe702=
Search 100 bp 5'
Search 100 bp 3'