Canonical Allele Identifier: CA273722

Gene: SOS1

Linked Data

• ClinVar Variation Id: 180179
• ClinVar RCV Id: RCV000157031 ; RCV000253007 ; RCV001089759 ; RCV001808426
• dbSNP Id: rs997344
• ExAC: 2:39281730 G / C
• gnomAD v2: 2-39281730-G-C
• gnomAD v3: 2-39054589-G-C
• gnomAD v4: 2-39054589-G-C
• MyVariant Identifiers: chr2:g.39281730G>C (hg19) ; chr2:g.39054589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054589G>C , CM000664.2:g.39054589G>C	GRCh38
NC_000002.11:g.39281730G>C , CM000664.1:g.39281730G>C	GRCh37
NC_000002.10:g.39135234G>C	NCBI36
NG_007530.1:g.70875C>G , LRG_754:g.70875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.747+25C>G
ENST00000685782.1:n.1558+25C>G
ENST00000688189.1:n.510C>G
ENST00000689668.1:n.727+25C>G
ENST00000690679.1:c.820+25C>G
ENST00000690876.1:c.720+25C>G	ENSP00000508955.1:n.720+25C>G
ENST00000691229.1:c.720+25C>G	ENSP00000510437.1:n.720+25C>G
ENST00000692089.1:c.720+25C>G	ENSP00000508626.1:n.720+25C>G
ENST00000402219.8:c.720+25C>G MANE Select	ENSP00000384675.2:n.720+25C>G
ENST00000395038.6:c.720+25C>G	ENSP00000378479.2:n.720+25C>G
ENST00000402219.6:c.720+25C>G	ENSP00000384675.2:n.720+25C>G
ENST00000426016.5:c.720+25C>G	ENSP00000387784.1:n.720+25C>G
NM_005633.3:c.720+25C>G , LRG_754t1:c.720+25C>G	NP_005624.2:n.720+25C>G
XM_005264515.3:c.720+25C>G	XP_005264572.1:n.720+25C>G
XM_011533060.1:c.813+25C>G	XP_011531362.1:n.813+25C>G
XM_011533061.1:c.813+25C>G	XP_011531363.1:n.813+25C>G
XM_011533062.1:c.699+25C>G	XP_011531364.1:n.699+25C>G
XM_011533063.1:c.696+25C>G	XP_011531365.1:n.696+25C>G
XM_011533064.1:c.549+25C>G	XP_011531366.1:n.549+25C>G
XM_011533065.1:c.813+25C>G	XP_011531367.1:n.813+25C>G
XM_005264515.4:c.720+25C>G	XP_005264572.1:n.720+25C>G
XM_011533062.2:c.699+25C>G	XP_011531364.1:n.699+25C>G
XM_011533064.2:c.549+25C>G	XP_011531366.1:n.549+25C>G
NM_001382394.1:c.699+25C>G	NP_001369323.1:n.699+25C>G
NM_001382395.1:c.720+25C>G	NP_001369324.1:n.720+25C>G
NM_005633.4:c.720+25C>G MANE Select	NP_005624.2:n.720+25C>G