Canonical Allele Identifier: CA7177528
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 767260
ClinVar RCV Id: RCV000945957 RCV001593139 RCV002222649 RCV003169453
dbSNP Id: rs774402309
ExAC: 14:50666523 A / G
gnomAD v2: 14-50666523-A-G
gnomAD v3: 14-50199805-A-G
gnomAD v4: 14-50199805-A-G
MyVariant Identifiers: chr14:g.50666523A>G (hg19) chr14:g.50199805A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199805A>G , CM000676.2:g.50199805A>G GRCh38
NC_000014.8:g.50666523A>G , CM000676.1:g.50666523A>G GRCh37
NC_000014.7:g.49736273A>G NCBI36
NG_051073.1:g.36889T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.396T>C MANE Select ENSP00000216373.5:p.Ala132=
ENST00000216373.9:c.396T>C ENSP00000216373.5:p.Ala132=
ENST00000543680.5:c.396T>C ENSP00000445328.1:p.Ala132=
ENST00000555666.1:n.575T>C
ENST00000556469.5:n.367T>C
NM_006939.2:c.396T>C NP_008870.2:p.Ala132=
XM_005268021.1:c.216T>C XP_005268078.1:p.Ala72=
XM_011537103.1:c.357T>C XP_011535405.1:p.Ala119=
XM_011537104.1:c.396T>C XP_011535406.1:p.Ala132=
XR_943842.1:n.1039+15933A>G
XR_943843.1:n.1039+15933A>G
NM_006939.3:c.396T>C NP_008870.2:p.Ala132=
NM_006939.4:c.396T>C MANE Select NP_008870.2:p.Ala132=
Search 100 bp 5'
Search 100 bp 3'