Canonical Allele Identifier: CA425866827
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1975255
ClinVar RCV Id: RCV002755581
dbSNP Id: rs1480253156
gnomAD v2: 2-39250180-G-C
gnomAD v4: 2-39023039-G-C
MyVariant Identifiers: chr2:g.39250180G>C (hg19) chr2:g.39023039G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023039G>C , CM000664.2:g.39023039G>C GRCh38
NC_000002.11:g.39250180G>C , CM000664.1:g.39250180G>C GRCh37
NC_000002.10:g.39103684G>C NCBI36
NG_007530.1:g.102425C>G , LRG_754:g.102425C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1269C>G
ENST00000685279.1:c.156C>G ENSP00000509424.1:p.Leu52=
ENST00000688043.1:n.1610C>G
ENST00000689668.1:n.1396C>G
ENST00000690876.1:c.1278C>G ENSP00000508955.1:p.Leu426=
ENST00000691229.1:c.1278C>G ENSP00000510437.1:p.Leu426=
ENST00000692089.1:c.1278C>G ENSP00000508626.1:p.Leu426=
ENST00000692620.1:c.156C>G ENSP00000509311.1:p.Leu52=
ENST00000402219.8:c.1389C>G MANE Select ENSP00000384675.2:p.Leu463=
ENST00000395038.6:c.1389C>G ENSP00000378479.2:p.Leu463=
ENST00000402219.6:c.1389C>G ENSP00000384675.2:p.Leu463=
ENST00000426016.5:c.1389C>G ENSP00000387784.1:p.Leu463=
ENST00000472480.1:n.233C>G
NM_005633.3:c.1389C>G , LRG_754t1:c.1389C>G NP_005624.2:p.Leu463=
XM_005264515.3:c.1389C>G XP_005264572.1:p.Leu463=
XM_011533060.1:c.1482C>G XP_011531362.1:p.Leu494=
XM_011533061.1:c.1482C>G XP_011531363.1:p.Leu494=
XM_011533062.1:c.1368C>G XP_011531364.1:p.Leu456=
XM_011533063.1:c.1365C>G XP_011531365.1:p.Leu455=
XM_011533064.1:c.1218C>G XP_011531366.1:p.Leu406=
XM_011533065.1:c.1482C>G XP_011531367.1:p.Leu494=
XM_011533066.1:c.324C>G XP_011531368.1:p.Leu108=
XM_005264515.4:c.1389C>G XP_005264572.1:p.Leu463=
XM_011533062.2:c.1368C>G XP_011531364.1:p.Leu456=
XM_011533064.2:c.1218C>G XP_011531366.1:p.Leu406=
NM_001382394.1:c.1368C>G NP_001369323.1:p.Leu456=
NM_001382395.1:c.1389C>G NP_001369324.1:p.Leu463=
NM_005633.4:c.1389C>G MANE Select NP_005624.2:p.Leu463=
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