Canonical Allele Identifier: CA1624693

Gene: SOS1

Linked Data

• ClinVar Variation Id: 336022
• ClinVar RCV Id: RCV000308567 ; RCV000398670 ; RCV001448293 ; RCV002374579
• dbSNP Id: rs750788947
• ExAC: 2:39262645 A / G
• gnomAD v2: 2-39262645-A-G
• gnomAD v3: 2-39035504-A-G
• gnomAD v4: 2-39035504-A-G
• MyVariant Identifiers: chr2:g.39262645A>G (hg19) ; chr2:g.39035504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39035504A>G , CM000664.2:g.39035504A>G	GRCh38
NC_000002.11:g.39262645A>G , CM000664.1:g.39262645A>G	GRCh37
NC_000002.10:g.39116149A>G	NCBI36
NG_007530.1:g.89960T>C , LRG_754:g.89960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.892-4T>C
ENST00000472480.2:n.745-4T>C
ENST00000685782.1:n.1703-4T>C
ENST00000689668.1:n.872-4T>C
ENST00000690679.1:c.965-4T>C
ENST00000690876.1:c.865-194T>C	ENSP00000508955.1:n.865-194T>C
ENST00000691229.1:c.865-194T>C	ENSP00000510437.1:n.865-194T>C
ENST00000692089.1:c.865-194T>C	ENSP00000508626.1:n.865-194T>C
ENST00000402219.8:c.865-4T>C MANE Select	ENSP00000384675.2:n.865-4T>C
ENST00000395038.6:c.865-4T>C	ENSP00000378479.2:n.865-4T>C
ENST00000402219.6:c.865-4T>C	ENSP00000384675.2:n.865-4T>C
ENST00000426016.5:c.865-4T>C	ENSP00000387784.1:n.865-4T>C
ENST00000461545.1:n.215-4T>C
NM_005633.3:c.865-4T>C , LRG_754t1:c.865-4T>C	NP_005624.2:n.865-4T>C
XM_005264515.3:c.865-4T>C	XP_005264572.1:n.865-4T>C
XM_011533060.1:c.958-4T>C	XP_011531362.1:n.958-4T>C
XM_011533061.1:c.958-4T>C	XP_011531363.1:n.958-4T>C
XM_011533062.1:c.844-4T>C	XP_011531364.1:n.844-4T>C
XM_011533063.1:c.841-4T>C	XP_011531365.1:n.841-4T>C
XM_011533064.1:c.694-4T>C	XP_011531366.1:n.694-4T>C
XM_011533065.1:c.958-4T>C	XP_011531367.1:n.958-4T>C
XM_005264515.4:c.865-4T>C	XP_005264572.1:n.865-4T>C
XM_011533062.2:c.844-4T>C	XP_011531364.1:n.844-4T>C
XM_011533064.2:c.694-4T>C	XP_011531366.1:n.694-4T>C
NM_001382394.1:c.844-4T>C	NP_001369323.1:n.844-4T>C
NM_001382395.1:c.865-4T>C	NP_001369324.1:n.865-4T>C
NM_005633.4:c.865-4T>C MANE Select	NP_005624.2:n.865-4T>C