Canonical Allele Identifier: CA181051
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 177950
ClinVar RCV Id: RCV000154613 RCV000275140 RCV000328078 RCV000727924 RCV001030080 RCV001813398 RCV003975208
dbSNP Id: rs188849286
ExAC: 2:39212961 G / A
gnomAD v2: 2-39212961-G-A
gnomAD v3: 2-38985820-G-A
gnomAD v4: 2-38985820-G-A
MyVariant Identifiers: chr2:g.39212961G>A (hg19) chr2:g.38985820G>A (hg38)
ERepo: CA181051/MONDO:0021060/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38985820G>A , CM000664.2:g.38985820G>A GRCh38
NC_000002.11:g.39212961G>A , CM000664.1:g.39212961G>A GRCh37
NC_000002.10:g.39066465G>A NCBI36
NG_007530.1:g.139644C>T , LRG_754:g.139644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.*4C>T ENSP00000509424.1:n.*4C>T
ENST00000686849.1:n.797C>T
ENST00000690876.1:c.*1312C>T ENSP00000508955.1:n.*1312C>T
ENST00000692089.1:c.3399+1653C>T ENSP00000508626.1:n.3399+1653C>T
ENST00000692227.1:c.1162-457C>T ENSP00000509138.1:n.1162-457C>T
ENST00000402219.8:c.*4C>T MANE Select ENSP00000384675.2:n.*4C>T
ENST00000395038.6:c.*4C>T ENSP00000378479.2:n.*4C>T
ENST00000402219.6:c.*4C>T ENSP00000384675.2:n.*4C>T
ENST00000426016.5:c.*4C>T ENSP00000387784.1:n.*4C>T
NM_005633.3:c.*4C>T , LRG_754t1:c.*4C>T NP_005624.2:n.*4C>T
XM_005264515.3:c.*4C>T XP_005264572.1:n.*4C>T
XM_011533060.1:c.*4C>T XP_011531362.1:n.*4C>T
XM_011533061.1:c.*4C>T XP_011531363.1:n.*4C>T
XM_011533062.1:c.*4C>T XP_011531364.1:n.*4C>T
XM_011533063.1:c.*4C>T XP_011531365.1:n.*4C>T
XM_011533064.1:c.*4C>T XP_011531366.1:n.*4C>T
XM_011533065.1:c.3604-457C>T XP_011531367.1:n.3604-457C>T
XM_011533066.1:c.*4C>T XP_011531368.1:n.*4C>T
XM_005264515.4:c.*4C>T XP_005264572.1:n.*4C>T
XM_011533062.2:c.*4C>T XP_011531364.1:n.*4C>T
XM_011533064.2:c.*4C>T XP_011531366.1:n.*4C>T
NM_001382394.1:c.*4C>T NP_001369323.1:n.*4C>T
NM_001382395.1:c.*4C>T NP_001369324.1:n.*4C>T
NM_005633.4:c.*4C>T MANE Select NP_005624.2:n.*4C>T
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