Canonical Allele Identifier: CA136077

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40665
• ClinVar RCV Id: RCV000156987 ; RCV000203903 ; RCV000157704 ; RCV000336293 ; RCV000038511 ; RCV001094607 ; RCV001813284 ; RCV002362607
• dbSNP Id: rs141390073
• ExAC: 2:39250339 C / T
• gnomAD v2: 2-39250339-C-T
• gnomAD v3: 2-39023198-C-T
• gnomAD v4: 2-39023198-C-T
• COSMIC: COSM3380157
• MyVariant Identifiers: chr2:g.39250339C>T (hg19) ; chr2:g.39023198C>T (hg38)
• ERepo: CA136077/MONDO:0021060/004 ; CA136077/MONDO:0021060/041

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023198C>T , CM000664.2:g.39023198C>T	GRCh38
NC_000002.11:g.39250339C>T , CM000664.1:g.39250339C>T	GRCh37
NC_000002.10:g.39103843C>T	NCBI36
NG_007530.1:g.102266G>A , LRG_754:g.102266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1110G>A
ENST00000685279.1:c.-4G>A	ENSP00000509424.1:n.-4G>A
ENST00000688043.1:n.1451G>A
ENST00000689668.1:n.1237G>A
ENST00000690679.1:c.1417G>A
ENST00000690876.1:c.1119G>A	ENSP00000508955.1:p.Gln373=
ENST00000691229.1:c.1119G>A	ENSP00000510437.1:p.Gln373=
ENST00000692089.1:c.1119G>A	ENSP00000508626.1:p.Gln373=
ENST00000692620.1:c.-4G>A	ENSP00000509311.1:n.-4G>A
ENST00000402219.8:c.1230G>A MANE Select	ENSP00000384675.2:p.Gln410=
ENST00000395038.6:c.1230G>A	ENSP00000378479.2:p.Gln410=
ENST00000402219.6:c.1230G>A	ENSP00000384675.2:p.Gln410=
ENST00000426016.5:c.1230G>A	ENSP00000387784.1:p.Gln410=
ENST00000472480.1:n.74G>A
NM_005633.3:c.1230G>A , LRG_754t1:c.1230G>A	NP_005624.2:p.Gln410=
XM_005264515.3:c.1230G>A	XP_005264572.1:p.Gln410=
XM_011533060.1:c.1323G>A	XP_011531362.1:p.Gln441=
XM_011533061.1:c.1323G>A	XP_011531363.1:p.Gln441=
XM_011533062.1:c.1209G>A	XP_011531364.1:p.Gln403=
XM_011533063.1:c.1206G>A	XP_011531365.1:p.Gln402=
XM_011533064.1:c.1059G>A	XP_011531366.1:p.Gln353=
XM_011533065.1:c.1323G>A	XP_011531367.1:p.Gln441=
XM_011533066.1:c.165G>A	XP_011531368.1:p.Gln55=
XM_005264515.4:c.1230G>A	XP_005264572.1:p.Gln410=
XM_011533062.2:c.1209G>A	XP_011531364.1:p.Gln403=
XM_011533064.2:c.1059G>A	XP_011531366.1:p.Gln353=
NM_001382394.1:c.1209G>A	NP_001369323.1:p.Gln403=
NM_001382395.1:c.1230G>A	NP_001369324.1:p.Gln410=
NM_005633.4:c.1230G>A MANE Select	NP_005624.2:p.Gln410=