Canonical Allele Identifier: CA297234

Gene: SOS1

Linked Data

• ClinVar Variation Id: 181544
• ClinVar RCV Id: RCV000697593 ; RCV000722119 ; RCV000587119 ; RCV002467629 ; RCV002467630 ; RCV002453553
• dbSNP Id: rs56248239
• ExAC: 2:39214712 T / C
• gnomAD v2: 2-39214712-T-C
• gnomAD v3: 2-38987571-T-C
• gnomAD v4: 2-38987571-T-C
• MyVariant Identifiers: chr2:g.39214712T>C (hg19) ; chr2:g.38987571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38987571T>C , CM000664.2:g.38987571T>C	GRCh38
NC_000002.11:g.39214712T>C , CM000664.1:g.39214712T>C	GRCh37
NC_000002.10:g.39068216T>C	NCBI36
NG_007530.1:g.137893A>G , LRG_754:g.137893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2179A>G	ENSP00000509424.1:p.Ile727Val
ENST00000686849.1:n.203A>G
ENST00000690876.1:c.*718A>G	ENSP00000508955.1:n.*718A>G
ENST00000692089.1:c.3301A>G	ENSP00000508626.1:p.Ile1101Val
ENST00000692227.1:c.1063A>G	ENSP00000509138.1:p.Ile355Val
ENST00000402219.8:c.3412A>G MANE Select	ENSP00000384675.2:p.Ile1138Val
ENST00000395038.6:c.3367A>G	ENSP00000378479.2:p.Ile1123Val
ENST00000402219.6:c.3412A>G	ENSP00000384675.2:p.Ile1138Val
ENST00000426016.5:c.3412A>G	ENSP00000387784.1:p.Ile1138Val
ENST00000469581.1:n.155A>G
NM_005633.3:c.3412A>G , LRG_754t1:c.3412A>G	NP_005624.2:p.Ile1138Val
XM_005264515.3:c.3367A>G	XP_005264572.1:p.Ile1123Val
XM_011533060.1:c.3505A>G	XP_011531362.1:p.Ile1169Val
XM_011533061.1:c.3460A>G	XP_011531363.1:p.Ile1154Val
XM_011533062.1:c.3391A>G	XP_011531364.1:p.Ile1131Val
XM_011533063.1:c.3388A>G	XP_011531365.1:p.Ile1130Val
XM_011533064.1:c.3241A>G	XP_011531366.1:p.Ile1081Val
XM_011533065.1:c.3505A>G	XP_011531367.1:p.Ile1169Val
XM_011533066.1:c.2347A>G	XP_011531368.1:p.Ile783Val
XM_005264515.4:c.3367A>G	XP_005264572.1:p.Ile1123Val
XM_011533062.2:c.3391A>G	XP_011531364.1:p.Ile1131Val
XM_011533064.2:c.3241A>G	XP_011531366.1:p.Ile1081Val
NM_001382394.1:c.3391A>G	NP_001369323.1:p.Ile1131Val
NM_001382395.1:c.3367A>G	NP_001369324.1:p.Ile1123Val
NM_005633.4:c.3412A>G MANE Select	NP_005624.2:p.Ile1138Val