Canonical Allele Identifier: CA346366595

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2818180
• ClinVar RCV Id: RCV003655740
• dbSNP Id: rs1669851885
• MyVariant Identifiers: chr2:g.39250314T>C (hg19) ; chr2:g.39023173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023173T>C , CM000664.2:g.39023173T>C	GRCh38
NC_000002.11:g.39250314T>C , CM000664.1:g.39250314T>C	GRCh37
NC_000002.10:g.39103818T>C	NCBI36
NG_007530.1:g.102291A>G , LRG_754:g.102291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1135A>G
ENST00000685279.1:c.22A>G	ENSP00000509424.1:p.Ile8Val
ENST00000688043.1:n.1476A>G
ENST00000689668.1:n.1262A>G
ENST00000690679.1:c.1442A>G
ENST00000690876.1:c.1144A>G	ENSP00000508955.1:p.Ile382Val
ENST00000691229.1:c.1144A>G	ENSP00000510437.1:p.Ile382Val
ENST00000692089.1:c.1144A>G	ENSP00000508626.1:p.Ile382Val
ENST00000692620.1:c.22A>G	ENSP00000509311.1:p.Ile8Val
ENST00000402219.8:c.1255A>G MANE Select	ENSP00000384675.2:p.Ile419Val
ENST00000395038.6:c.1255A>G	ENSP00000378479.2:p.Ile419Val
ENST00000402219.6:c.1255A>G	ENSP00000384675.2:p.Ile419Val
ENST00000426016.5:c.1255A>G	ENSP00000387784.1:p.Ile419Val
ENST00000472480.1:n.99A>G
NM_005633.3:c.1255A>G , LRG_754t1:c.1255A>G	NP_005624.2:p.Ile419Val
XM_005264515.3:c.1255A>G	XP_005264572.1:p.Ile419Val
XM_011533060.1:c.1348A>G	XP_011531362.1:p.Ile450Val
XM_011533061.1:c.1348A>G	XP_011531363.1:p.Ile450Val
XM_011533062.1:c.1234A>G	XP_011531364.1:p.Ile412Val
XM_011533063.1:c.1231A>G	XP_011531365.1:p.Ile411Val
XM_011533064.1:c.1084A>G	XP_011531366.1:p.Ile362Val
XM_011533065.1:c.1348A>G	XP_011531367.1:p.Ile450Val
XM_011533066.1:c.190A>G	XP_011531368.1:p.Ile64Val
XM_005264515.4:c.1255A>G	XP_005264572.1:p.Ile419Val
XM_011533062.2:c.1234A>G	XP_011531364.1:p.Ile412Val
XM_011533064.2:c.1084A>G	XP_011531366.1:p.Ile362Val
NM_001382394.1:c.1234A>G	NP_001369323.1:p.Ile412Val
NM_001382395.1:c.1255A>G	NP_001369324.1:p.Ile419Val
NM_005633.4:c.1255A>G MANE Select	NP_005624.2:p.Ile419Val