Canonical Allele Identifier: CA346366272
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2085827
ClinVar RCV Id: RCV002996470
gnomAD v4: 2-39023034-T-C
MyVariant Identifiers: chr2:g.39250175T>C (hg19) chr2:g.39023034T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023034T>C , CM000664.2:g.39023034T>C GRCh38
NC_000002.11:g.39250175T>C , CM000664.1:g.39250175T>C GRCh37
NC_000002.10:g.39103679T>C NCBI36
NG_007530.1:g.102430A>G , LRG_754:g.102430A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1274A>G
ENST00000685279.1:c.161A>G ENSP00000509424.1:p.Asp54Gly
ENST00000688043.1:n.1615A>G
ENST00000689668.1:n.1401A>G
ENST00000690876.1:c.1283A>G ENSP00000508955.1:p.Asp428Gly
ENST00000691229.1:c.1283A>G ENSP00000510437.1:p.Asp428Gly
ENST00000692089.1:c.1283A>G ENSP00000508626.1:p.Asp428Gly
ENST00000692620.1:c.161A>G ENSP00000509311.1:p.Asp54Gly
ENST00000402219.8:c.1394A>G MANE Select ENSP00000384675.2:p.Asp465Gly
ENST00000395038.6:c.1394A>G ENSP00000378479.2:p.Asp465Gly
ENST00000402219.6:c.1394A>G ENSP00000384675.2:p.Asp465Gly
ENST00000426016.5:c.1394A>G ENSP00000387784.1:p.Asp465Gly
ENST00000472480.1:n.238A>G
NM_005633.3:c.1394A>G , LRG_754t1:c.1394A>G NP_005624.2:p.Asp465Gly
XM_005264515.3:c.1394A>G XP_005264572.1:p.Asp465Gly
XM_011533060.1:c.1487A>G XP_011531362.1:p.Asp496Gly
XM_011533061.1:c.1487A>G XP_011531363.1:p.Asp496Gly
XM_011533062.1:c.1373A>G XP_011531364.1:p.Asp458Gly
XM_011533063.1:c.1370A>G XP_011531365.1:p.Asp457Gly
XM_011533064.1:c.1223A>G XP_011531366.1:p.Asp408Gly
XM_011533065.1:c.1487A>G XP_011531367.1:p.Asp496Gly
XM_011533066.1:c.329A>G XP_011531368.1:p.Asp110Gly
XM_005264515.4:c.1394A>G XP_005264572.1:p.Asp465Gly
XM_011533062.2:c.1373A>G XP_011531364.1:p.Asp458Gly
XM_011533064.2:c.1223A>G XP_011531366.1:p.Asp408Gly
NM_001382394.1:c.1373A>G NP_001369323.1:p.Asp458Gly
NM_001382395.1:c.1394A>G NP_001369324.1:p.Asp465Gly
NM_005633.4:c.1394A>G MANE Select NP_005624.2:p.Asp465Gly
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