Canonical Allele Identifier: CA1624593

Gene: SOS1

Linked Data

• dbSNP Id: rs747840148
• ExAC: 2:39250073 A / G
• gnomAD v2: 2-39250073-A-G
• gnomAD v3: 2-39022932-A-G
• gnomAD v4: 2-39022932-A-G
• MyVariant Identifiers: chr2:g.39250073A>G (hg19) ; chr2:g.39022932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022932A>G , CM000664.2:g.39022932A>G	GRCh38
NC_000002.11:g.39250073A>G , CM000664.1:g.39250073A>G	GRCh37
NC_000002.10:g.39103577A>G	NCBI36
NG_007530.1:g.102532T>C , LRG_754:g.102532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1376T>C
ENST00000685279.1:c.263T>C	ENSP00000509424.1:p.Val88Ala
ENST00000688043.1:n.1717T>C
ENST00000689668.1:n.1503T>C
ENST00000690876.1:c.1385T>C	ENSP00000508955.1:p.Val462Ala
ENST00000691229.1:c.1385T>C	ENSP00000510437.1:p.Val462Ala
ENST00000692089.1:c.1385T>C	ENSP00000508626.1:p.Val462Ala
ENST00000692620.1:c.263T>C	ENSP00000509311.1:p.Val88Ala
ENST00000402219.8:c.1496T>C MANE Select	ENSP00000384675.2:p.Val499Ala
ENST00000395038.6:c.1496T>C	ENSP00000378479.2:p.Val499Ala
ENST00000402219.6:c.1496T>C	ENSP00000384675.2:p.Val499Ala
ENST00000426016.5:c.1496T>C	ENSP00000387784.1:p.Val499Ala
ENST00000472480.1:n.340T>C
NM_005633.3:c.1496T>C , LRG_754t1:c.1496T>C	NP_005624.2:p.Val499Ala
XM_005264515.3:c.1496T>C	XP_005264572.1:p.Val499Ala
XM_011533060.1:c.1589T>C	XP_011531362.1:p.Val530Ala
XM_011533061.1:c.1589T>C	XP_011531363.1:p.Val530Ala
XM_011533062.1:c.1475T>C	XP_011531364.1:p.Val492Ala
XM_011533063.1:c.1472T>C	XP_011531365.1:p.Val491Ala
XM_011533064.1:c.1325T>C	XP_011531366.1:p.Val442Ala
XM_011533065.1:c.1589T>C	XP_011531367.1:p.Val530Ala
XM_011533066.1:c.431T>C	XP_011531368.1:p.Val144Ala
XM_005264515.4:c.1496T>C	XP_005264572.1:p.Val499Ala
XM_011533062.2:c.1475T>C	XP_011531364.1:p.Val492Ala
XM_011533064.2:c.1325T>C	XP_011531366.1:p.Val442Ala
NM_001382394.1:c.1475T>C	NP_001369323.1:p.Val492Ala
NM_001382395.1:c.1496T>C	NP_001369324.1:p.Val499Ala
NM_005633.4:c.1496T>C MANE Select	NP_005624.2:p.Val499Ala