Canonical Allele Identifier: CA346372912

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2744884
• ClinVar RCV Id: RCV003540232
• gnomAD v4: 2-39054619-C-G
• MyVariant Identifiers: chr2:g.39281760C>G (hg19) ; chr2:g.39054619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054619C>G , CM000664.2:g.39054619C>G	GRCh38
NC_000002.11:g.39281760C>G , CM000664.1:g.39281760C>G	GRCh37
NC_000002.10:g.39135264C>G	NCBI36
NG_007530.1:g.70845G>C , LRG_754:g.70845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.742G>C
ENST00000685782.1:n.1553G>C
ENST00000688189.1:n.480G>C
ENST00000689668.1:n.722G>C
ENST00000690679.1:c.815G>C
ENST00000690876.1:c.715G>C	ENSP00000508955.1:p.Ala239Pro
ENST00000691229.1:c.715G>C	ENSP00000510437.1:p.Ala239Pro
ENST00000692089.1:c.715G>C	ENSP00000508626.1:p.Ala239Pro
ENST00000402219.8:c.715G>C MANE Select	ENSP00000384675.2:p.Ala239Pro
ENST00000395038.6:c.715G>C	ENSP00000378479.2:p.Ala239Pro
ENST00000402219.6:c.715G>C	ENSP00000384675.2:p.Ala239Pro
ENST00000426016.5:c.715G>C	ENSP00000387784.1:p.Ala239Pro
NM_005633.3:c.715G>C , LRG_754t1:c.715G>C	NP_005624.2:p.Ala239Pro
XM_005264515.3:c.715G>C	XP_005264572.1:p.Ala239Pro
XM_011533060.1:c.808G>C	XP_011531362.1:p.Ala270Pro
XM_011533061.1:c.808G>C	XP_011531363.1:p.Ala270Pro
XM_011533062.1:c.694G>C	XP_011531364.1:p.Ala232Pro
XM_011533063.1:c.691G>C	XP_011531365.1:p.Ala231Pro
XM_011533064.1:c.544G>C	XP_011531366.1:p.Ala182Pro
XM_011533065.1:c.808G>C	XP_011531367.1:p.Ala270Pro
XM_005264515.4:c.715G>C	XP_005264572.1:p.Ala239Pro
XM_011533062.2:c.694G>C	XP_011531364.1:p.Ala232Pro
XM_011533064.2:c.544G>C	XP_011531366.1:p.Ala182Pro
NM_001382394.1:c.694G>C	NP_001369323.1:p.Ala232Pro
NM_001382395.1:c.715G>C	NP_001369324.1:p.Ala239Pro
NM_005633.4:c.715G>C MANE Select	NP_005624.2:p.Ala239Pro