Canonical Allele Identifier: CA16042487
Gene: SOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372635
ClinVar RCV Id: RCV000414536
dbSNP Id: rs1057517897
MyVariant Identifiers: chr2:g.39250110C>T (hg19) chr2:g.39022969C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022969C>T , CM000664.2:g.39022969C>T GRCh38
NC_000002.11:g.39250110C>T , CM000664.1:g.39250110C>T GRCh37
NC_000002.10:g.39103614C>T NCBI36
NG_007530.1:g.102495G>A , LRG_754:g.102495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1339G>A
ENST00000685279.1:c.226G>A ENSP00000509424.1:p.Glu76Lys
ENST00000688043.1:n.1680G>A
ENST00000689668.1:n.1466G>A
ENST00000690876.1:c.1348G>A ENSP00000508955.1:p.Glu450Lys
ENST00000691229.1:c.1348G>A ENSP00000510437.1:p.Glu450Lys
ENST00000692089.1:c.1348G>A ENSP00000508626.1:p.Glu450Lys
ENST00000692620.1:c.226G>A ENSP00000509311.1:p.Glu76Lys
ENST00000402219.8:c.1459G>A MANE Select ENSP00000384675.2:p.Glu487Lys
ENST00000395038.6:c.1459G>A ENSP00000378479.2:p.Glu487Lys
ENST00000402219.6:c.1459G>A ENSP00000384675.2:p.Glu487Lys
ENST00000426016.5:c.1459G>A ENSP00000387784.1:p.Glu487Lys
ENST00000472480.1:n.303G>A
NM_005633.3:c.1459G>A , LRG_754t1:c.1459G>A NP_005624.2:p.Glu487Lys
XM_005264515.3:c.1459G>A XP_005264572.1:p.Glu487Lys
XM_011533060.1:c.1552G>A XP_011531362.1:p.Glu518Lys
XM_011533061.1:c.1552G>A XP_011531363.1:p.Glu518Lys
XM_011533062.1:c.1438G>A XP_011531364.1:p.Glu480Lys
XM_011533063.1:c.1435G>A XP_011531365.1:p.Glu479Lys
XM_011533064.1:c.1288G>A XP_011531366.1:p.Glu430Lys
XM_011533065.1:c.1552G>A XP_011531367.1:p.Glu518Lys
XM_011533066.1:c.394G>A XP_011531368.1:p.Glu132Lys
XM_005264515.4:c.1459G>A XP_005264572.1:p.Glu487Lys
XM_011533062.2:c.1438G>A XP_011531364.1:p.Glu480Lys
XM_011533064.2:c.1288G>A XP_011531366.1:p.Glu430Lys
NM_001382394.1:c.1438G>A NP_001369323.1:p.Glu480Lys
NM_001382395.1:c.1459G>A NP_001369324.1:p.Glu487Lys
NM_005633.4:c.1459G>A MANE Select NP_005624.2:p.Glu487Lys
Search 100 bp 5'
Search 100 bp 3'