Canonical Allele Identifier: CA346365749
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052326
ClinVar RCV Id: RCV001360485
dbSNP Id: rs2124536870
MyVariant Identifiers: chr2:g.39249950G>A (hg19) chr2:g.39022809G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022809G>A , CM000664.2:g.39022809G>A GRCh38
NC_000002.11:g.39249950G>A , CM000664.1:g.39249950G>A GRCh37
NC_000002.10:g.39103454G>A NCBI36
NG_007530.1:g.102655C>T , LRG_754:g.102655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1499C>T
ENST00000685279.1:c.386C>T ENSP00000509424.1:p.Ala129Val
ENST00000688043.1:n.1840C>T
ENST00000689668.1:n.1626C>T
ENST00000690876.1:c.1508C>T ENSP00000508955.1:p.Ala503Val
ENST00000691229.1:c.1508C>T ENSP00000510437.1:p.Ala503Val
ENST00000692089.1:c.1508C>T ENSP00000508626.1:p.Ala503Val
ENST00000692620.1:c.386C>T ENSP00000509311.1:p.Ala129Val
ENST00000402219.8:c.1619C>T MANE Select ENSP00000384675.2:p.Ala540Val
ENST00000395038.6:c.1619C>T ENSP00000378479.2:p.Ala540Val
ENST00000402219.6:c.1619C>T ENSP00000384675.2:p.Ala540Val
ENST00000426016.5:c.1619C>T ENSP00000387784.1:p.Ala540Val
NM_005633.3:c.1619C>T , LRG_754t1:c.1619C>T NP_005624.2:p.Ala540Val
XM_005264515.3:c.1619C>T XP_005264572.1:p.Ala540Val
XM_011533060.1:c.1712C>T XP_011531362.1:p.Ala571Val
XM_011533061.1:c.1712C>T XP_011531363.1:p.Ala571Val
XM_011533062.1:c.1598C>T XP_011531364.1:p.Ala533Val
XM_011533063.1:c.1595C>T XP_011531365.1:p.Ala532Val
XM_011533064.1:c.1448C>T XP_011531366.1:p.Ala483Val
XM_011533065.1:c.1712C>T XP_011531367.1:p.Ala571Val
XM_011533066.1:c.554C>T XP_011531368.1:p.Ala185Val
XM_005264515.4:c.1619C>T XP_005264572.1:p.Ala540Val
XM_011533062.2:c.1598C>T XP_011531364.1:p.Ala533Val
XM_011533064.2:c.1448C>T XP_011531366.1:p.Ala483Val
NM_001382394.1:c.1598C>T NP_001369323.1:p.Ala533Val
NM_001382395.1:c.1619C>T NP_001369324.1:p.Ala540Val
NM_005633.4:c.1619C>T MANE Select NP_005624.2:p.Ala540Val
Search 100 bp 5'
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