Canonical Allele Identifier: CA346365493
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365663
ClinVar RCV Id: RCV001942715 RCV003401796 RCV003426226
dbSNP Id: rs1669835119
gnomAD v4: 2-39022689-G-C
MyVariant Identifiers: chr2:g.39249830G>C (hg19) chr2:g.39022689G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022689G>C , CM000664.2:g.39022689G>C GRCh38
NC_000002.11:g.39249830G>C , CM000664.1:g.39249830G>C GRCh37
NC_000002.10:g.39103334G>C NCBI36
NG_007530.1:g.102775C>G , LRG_754:g.102775C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1619C>G
ENST00000685279.1:c.506C>G ENSP00000509424.1:p.Pro169Arg
ENST00000688043.1:n.1960C>G
ENST00000689668.1:n.1746C>G
ENST00000690876.1:c.1628C>G ENSP00000508955.1:p.Pro543Arg
ENST00000691229.1:c.1628C>G ENSP00000510437.1:p.Pro543Arg
ENST00000692089.1:c.1628C>G ENSP00000508626.1:p.Pro543Arg
ENST00000692620.1:c.506C>G ENSP00000509311.1:p.Pro169Arg
ENST00000402219.8:c.1739C>G MANE Select ENSP00000384675.2:p.Pro580Arg
ENST00000395038.6:c.1739C>G ENSP00000378479.2:p.Pro580Arg
ENST00000402219.6:c.1739C>G ENSP00000384675.2:p.Pro580Arg
ENST00000426016.5:c.1739C>G ENSP00000387784.1:p.Pro580Arg
NM_005633.3:c.1739C>G , LRG_754t1:c.1739C>G NP_005624.2:p.Pro580Arg
XM_005264515.3:c.1739C>G XP_005264572.1:p.Pro580Arg
XM_011533060.1:c.1832C>G XP_011531362.1:p.Pro611Arg
XM_011533061.1:c.1832C>G XP_011531363.1:p.Pro611Arg
XM_011533062.1:c.1718C>G XP_011531364.1:p.Pro573Arg
XM_011533063.1:c.1715C>G XP_011531365.1:p.Pro572Arg
XM_011533064.1:c.1568C>G XP_011531366.1:p.Pro523Arg
XM_011533065.1:c.1832C>G XP_011531367.1:p.Pro611Arg
XM_011533066.1:c.674C>G XP_011531368.1:p.Pro225Arg
XM_005264515.4:c.1739C>G XP_005264572.1:p.Pro580Arg
XM_011533062.2:c.1718C>G XP_011531364.1:p.Pro573Arg
XM_011533064.2:c.1568C>G XP_011531366.1:p.Pro523Arg
NM_001382394.1:c.1718C>G NP_001369323.1:p.Pro573Arg
NM_001382395.1:c.1739C>G NP_001369324.1:p.Pro580Arg
NM_005633.4:c.1739C>G MANE Select NP_005624.2:p.Pro580Arg
Search 100 bp 5'
Search 100 bp 3'