Canonical Allele Identifier: CA10613342
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 336020
ClinVar RCV Id: RCV000337250 RCV000375653
dbSNP Id: rs886056025
MyVariant Identifiers: chr2:g.39249910C>T (hg19) chr2:g.39022769C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022769C>T , CM000664.2:g.39022769C>T GRCh38
NC_000002.11:g.39249910C>T , CM000664.1:g.39249910C>T GRCh37
NC_000002.10:g.39103414C>T NCBI36
NG_007530.1:g.102695G>A , LRG_754:g.102695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1539G>A
ENST00000685279.1:c.426G>A ENSP00000509424.1:p.Met142Ile
ENST00000688043.1:n.1880G>A
ENST00000689668.1:n.1666G>A
ENST00000690876.1:c.1548G>A ENSP00000508955.1:p.Met516Ile
ENST00000691229.1:c.1548G>A ENSP00000510437.1:p.Met516Ile
ENST00000692089.1:c.1548G>A ENSP00000508626.1:p.Met516Ile
ENST00000692620.1:c.426G>A ENSP00000509311.1:p.Met142Ile
ENST00000402219.8:c.1659G>A MANE Select ENSP00000384675.2:p.Met553Ile
ENST00000395038.6:c.1659G>A ENSP00000378479.2:p.Met553Ile
ENST00000402219.6:c.1659G>A ENSP00000384675.2:p.Met553Ile
ENST00000426016.5:c.1659G>A ENSP00000387784.1:p.Met553Ile
NM_005633.3:c.1659G>A , LRG_754t1:c.1659G>A NP_005624.2:p.Met553Ile
XM_005264515.3:c.1659G>A XP_005264572.1:p.Met553Ile
XM_011533060.1:c.1752G>A XP_011531362.1:p.Met584Ile
XM_011533061.1:c.1752G>A XP_011531363.1:p.Met584Ile
XM_011533062.1:c.1638G>A XP_011531364.1:p.Met546Ile
XM_011533063.1:c.1635G>A XP_011531365.1:p.Met545Ile
XM_011533064.1:c.1488G>A XP_011531366.1:p.Met496Ile
XM_011533065.1:c.1752G>A XP_011531367.1:p.Met584Ile
XM_011533066.1:c.594G>A XP_011531368.1:p.Met198Ile
XM_005264515.4:c.1659G>A XP_005264572.1:p.Met553Ile
XM_011533062.2:c.1638G>A XP_011531364.1:p.Met546Ile
XM_011533064.2:c.1488G>A XP_011531366.1:p.Met496Ile
NM_001382394.1:c.1638G>A NP_001369323.1:p.Met546Ile
NM_001382395.1:c.1659G>A NP_001369324.1:p.Met553Ile
NM_005633.4:c.1659G>A MANE Select NP_005624.2:p.Met553Ile
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