Canonical Allele Identifier: CA10602858

Gene: SOS1

Linked Data

• ClinVar Variation Id: 280646
• ClinVar RCV Id: RCV000397079 ; RCV002487177 ; RCV002519060
• dbSNP Id: rs886041814
• gnomAD v2: 2-39222462-T-C
• gnomAD v3: 2-38995321-T-C
• gnomAD v4: 2-38995321-T-C
• MyVariant Identifiers: chr2:g.39222462T>C (hg19) ; chr2:g.38995321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38995321T>C , CM000664.2:g.38995321T>C	GRCh38
NC_000002.11:g.39222462T>C , CM000664.1:g.39222462T>C	GRCh37
NC_000002.10:g.39075966T>C	NCBI36
NG_007530.1:g.130143A>G , LRG_754:g.130143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1915A>G	ENSP00000509424.1:p.Met639Val
ENST00000690876.1:c.*454A>G	ENSP00000508955.1:n.*454A>G
ENST00000691229.1:c.2917A>G	ENSP00000510437.1:p.Met973Val
ENST00000692089.1:c.3037A>G	ENSP00000508626.1:p.Met1013Val
ENST00000692227.1:c.844A>G	ENSP00000509138.1:p.Met282Val
ENST00000692620.1:c.*735A>G	ENSP00000509311.1:n.*735A>G
ENST00000402219.8:c.3148A>G MANE Select	ENSP00000384675.2:p.Met1050Val
ENST00000395038.6:c.3148A>G	ENSP00000378479.2:p.Met1050Val
ENST00000402219.6:c.3148A>G	ENSP00000384675.2:p.Met1050Val
ENST00000426016.5:c.3148A>G	ENSP00000387784.1:p.Met1050Val
NM_005633.3:c.3148A>G , LRG_754t1:c.3148A>G	NP_005624.2:p.Met1050Val
XM_005264515.3:c.3148A>G	XP_005264572.1:p.Met1050Val
XM_011533060.1:c.3241A>G	XP_011531362.1:p.Met1081Val
XM_011533061.1:c.3241A>G	XP_011531363.1:p.Met1081Val
XM_011533062.1:c.3127A>G	XP_011531364.1:p.Met1043Val
XM_011533063.1:c.3124A>G	XP_011531365.1:p.Met1042Val
XM_011533064.1:c.2977A>G	XP_011531366.1:p.Met993Val
XM_011533065.1:c.3241A>G	XP_011531367.1:p.Met1081Val
XM_011533066.1:c.2083A>G	XP_011531368.1:p.Met695Val
XM_005264515.4:c.3148A>G	XP_005264572.1:p.Met1050Val
XM_011533062.2:c.3127A>G	XP_011531364.1:p.Met1043Val
XM_011533064.2:c.2977A>G	XP_011531366.1:p.Met993Val
NM_001382394.1:c.3127A>G	NP_001369323.1:p.Met1043Val
NM_001382395.1:c.3148A>G	NP_001369324.1:p.Met1050Val
NM_005633.4:c.3148A>G MANE Select	NP_005624.2:p.Met1050Val