Canonical Allele Identifier: CA181527
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 40640
ClinVar RCV Id: RCV000154848 RCV000521504 RCV001711220 RCV002381283 RCV002482943 RCV003934876
dbSNP Id: rs139592595
ExAC: 2:39347491 G / A
gnomAD v2: 2-39347491-G-A
gnomAD v3: 2-39120350-G-A
gnomAD v4: 2-39120350-G-A
MyVariant Identifiers: chr2:g.39347491G>A (hg19) chr2:g.39120350G>A (hg38)
ERepo: CA181527/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39120350G>A , CM000664.2:g.39120350G>A GRCh38
NC_000002.11:g.39347491G>A , CM000664.1:g.39347491G>A GRCh37
NC_000002.10:g.39200995G>A NCBI36
NG_007530.1:g.5114C>T , LRG_754:g.5114C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461545.2:n.100C>T
ENST00000689668.1:n.80C>T
ENST00000690679.1:c.187+3809C>T
ENST00000690876.1:c.73C>T ENSP00000508955.1:p.Pro25Ser
ENST00000691229.1:c.73C>T ENSP00000510437.1:p.Pro25Ser
ENST00000692089.1:c.73C>T ENSP00000508626.1:p.Pro25Ser
ENST00000402219.8:c.73C>T MANE Select ENSP00000384675.2:p.Pro25Ser
ENST00000395038.6:c.73C>T ENSP00000378479.2:p.Pro25Ser
ENST00000402219.6:c.73C>T ENSP00000384675.2:p.Pro25Ser
ENST00000426016.5:c.73C>T ENSP00000387784.1:p.Pro25Ser
ENST00000451331.1:c.-85+3809C>T ENSP00000393899.1:n.-85+3809C>T
NM_005633.3:c.73C>T , LRG_754t1:c.73C>T NP_005624.2:p.Pro25Ser
XM_005264515.3:c.73C>T XP_005264572.1:p.Pro25Ser
XM_011533062.1:c.66+4314C>T XP_011531364.1:n.66+4314C>T
XM_005264515.4:c.73C>T XP_005264572.1:p.Pro25Ser
XM_011533062.2:c.66+4314C>T XP_011531364.1:n.66+4314C>T
NM_001382394.1:c.66+4314C>T NP_001369323.1:n.66+4314C>T
NM_001382395.1:c.73C>T NP_001369324.1:p.Pro25Ser
NM_005633.4:c.73C>T MANE Select NP_005624.2:p.Pro25Ser
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