Canonical Allele Identifier: CA346365895
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561968
ClinVar RCV Id: RCV000681429 RCV003540622
dbSNP Id: rs754115060
gnomAD v2: 2-39250011-C-A
MyVariant Identifiers: chr2:g.39250011C>A (hg19) chr2:g.39022870C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022870C>A , CM000664.2:g.39022870C>A GRCh38
NC_000002.11:g.39250011C>A , CM000664.1:g.39250011C>A GRCh37
NC_000002.10:g.39103515C>A NCBI36
NG_007530.1:g.102594G>T , LRG_754:g.102594G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1438G>T
ENST00000685279.1:c.325G>T ENSP00000509424.1:p.Asp109Tyr
ENST00000688043.1:n.1779G>T
ENST00000689668.1:n.1565G>T
ENST00000690876.1:c.1447G>T ENSP00000508955.1:p.Asp483Tyr
ENST00000691229.1:c.1447G>T ENSP00000510437.1:p.Asp483Tyr
ENST00000692089.1:c.1447G>T ENSP00000508626.1:p.Asp483Tyr
ENST00000692620.1:c.325G>T ENSP00000509311.1:p.Asp109Tyr
ENST00000402219.8:c.1558G>T MANE Select ENSP00000384675.2:p.Asp520Tyr
ENST00000395038.6:c.1558G>T ENSP00000378479.2:p.Asp520Tyr
ENST00000402219.6:c.1558G>T ENSP00000384675.2:p.Asp520Tyr
ENST00000426016.5:c.1558G>T ENSP00000387784.1:p.Asp520Tyr
NM_005633.3:c.1558G>T , LRG_754t1:c.1558G>T NP_005624.2:p.Asp520Tyr
XM_005264515.3:c.1558G>T XP_005264572.1:p.Asp520Tyr
XM_011533060.1:c.1651G>T XP_011531362.1:p.Asp551Tyr
XM_011533061.1:c.1651G>T XP_011531363.1:p.Asp551Tyr
XM_011533062.1:c.1537G>T XP_011531364.1:p.Asp513Tyr
XM_011533063.1:c.1534G>T XP_011531365.1:p.Asp512Tyr
XM_011533064.1:c.1387G>T XP_011531366.1:p.Asp463Tyr
XM_011533065.1:c.1651G>T XP_011531367.1:p.Asp551Tyr
XM_011533066.1:c.493G>T XP_011531368.1:p.Asp165Tyr
XM_005264515.4:c.1558G>T XP_005264572.1:p.Asp520Tyr
XM_011533062.2:c.1537G>T XP_011531364.1:p.Asp513Tyr
XM_011533064.2:c.1387G>T XP_011531366.1:p.Asp463Tyr
NM_001382394.1:c.1537G>T NP_001369323.1:p.Asp513Tyr
NM_001382395.1:c.1558G>T NP_001369324.1:p.Asp520Tyr
NM_005633.4:c.1558G>T MANE Select NP_005624.2:p.Asp520Tyr
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