Canonical Allele Identifier: CA346365554
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022715-A-C
MyVariant Identifiers: chr2:g.39249856A>C (hg19) chr2:g.39022715A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022715A>C , CM000664.2:g.39022715A>C GRCh38
NC_000002.11:g.39249856A>C , CM000664.1:g.39249856A>C GRCh37
NC_000002.10:g.39103360A>C NCBI36
NG_007530.1:g.102749T>G , LRG_754:g.102749T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1593T>G
ENST00000685279.1:c.480T>G ENSP00000509424.1:p.Ser160Arg
ENST00000688043.1:n.1934T>G
ENST00000689668.1:n.1720T>G
ENST00000690876.1:c.1602T>G ENSP00000508955.1:p.Ser534Arg
ENST00000691229.1:c.1602T>G ENSP00000510437.1:p.Ser534Arg
ENST00000692089.1:c.1602T>G ENSP00000508626.1:p.Ser534Arg
ENST00000692620.1:c.480T>G ENSP00000509311.1:p.Ser160Arg
ENST00000402219.8:c.1713T>G MANE Select ENSP00000384675.2:p.Ser571Arg
ENST00000395038.6:c.1713T>G ENSP00000378479.2:p.Ser571Arg
ENST00000402219.6:c.1713T>G ENSP00000384675.2:p.Ser571Arg
ENST00000426016.5:c.1713T>G ENSP00000387784.1:p.Ser571Arg
NM_005633.3:c.1713T>G , LRG_754t1:c.1713T>G NP_005624.2:p.Ser571Arg
XM_005264515.3:c.1713T>G XP_005264572.1:p.Ser571Arg
XM_011533060.1:c.1806T>G XP_011531362.1:p.Ser602Arg
XM_011533061.1:c.1806T>G XP_011531363.1:p.Ser602Arg
XM_011533062.1:c.1692T>G XP_011531364.1:p.Ser564Arg
XM_011533063.1:c.1689T>G XP_011531365.1:p.Ser563Arg
XM_011533064.1:c.1542T>G XP_011531366.1:p.Ser514Arg
XM_011533065.1:c.1806T>G XP_011531367.1:p.Ser602Arg
XM_011533066.1:c.648T>G XP_011531368.1:p.Ser216Arg
XM_005264515.4:c.1713T>G XP_005264572.1:p.Ser571Arg
XM_011533062.2:c.1692T>G XP_011531364.1:p.Ser564Arg
XM_011533064.2:c.1542T>G XP_011531366.1:p.Ser514Arg
NM_001382394.1:c.1692T>G NP_001369323.1:p.Ser564Arg
NM_001382395.1:c.1713T>G NP_001369324.1:p.Ser571Arg
NM_005633.4:c.1713T>G MANE Select NP_005624.2:p.Ser571Arg
Search 100 bp 5'
Search 100 bp 3'