Canonical Allele Identifier: CA297264

Gene: SOS1

Linked Data

• ClinVar Variation Id: 181551
• ClinVar RCV Id: RCV001261079 ; RCV001379728 ; RCV002467633
• dbSNP Id: rs397517150
• gnomAD v4: 2-39023118-A-C
• MyVariant Identifiers: chr2:g.39250259A>C (hg19) ; chr2:g.39023118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023118A>C , CM000664.2:g.39023118A>C	GRCh38
NC_000002.11:g.39250259A>C , CM000664.1:g.39250259A>C	GRCh37
NC_000002.10:g.39103763A>C	NCBI36
NG_007530.1:g.102346T>G , LRG_754:g.102346T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1190T>G
ENST00000685279.1:c.77T>G	ENSP00000509424.1:p.Ile26Ser
ENST00000688043.1:n.1531T>G
ENST00000689668.1:n.1317T>G
ENST00000690876.1:c.1199T>G	ENSP00000508955.1:p.Ile400Ser
ENST00000691229.1:c.1199T>G	ENSP00000510437.1:p.Ile400Ser
ENST00000692089.1:c.1199T>G	ENSP00000508626.1:p.Ile400Ser
ENST00000692620.1:c.77T>G	ENSP00000509311.1:p.Ile26Ser
ENST00000402219.8:c.1310T>G MANE Select	ENSP00000384675.2:p.Ile437Ser
ENST00000395038.6:c.1310T>G	ENSP00000378479.2:p.Ile437Ser
ENST00000402219.6:c.1310T>G	ENSP00000384675.2:p.Ile437Ser
ENST00000426016.5:c.1310T>G	ENSP00000387784.1:p.Ile437Ser
ENST00000472480.1:n.154T>G
NM_005633.3:c.1310T>G , LRG_754t1:c.1310T>G	NP_005624.2:p.Ile437Ser
XM_005264515.3:c.1310T>G	XP_005264572.1:p.Ile437Ser
XM_011533060.1:c.1403T>G	XP_011531362.1:p.Ile468Ser
XM_011533061.1:c.1403T>G	XP_011531363.1:p.Ile468Ser
XM_011533062.1:c.1289T>G	XP_011531364.1:p.Ile430Ser
XM_011533063.1:c.1286T>G	XP_011531365.1:p.Ile429Ser
XM_011533064.1:c.1139T>G	XP_011531366.1:p.Ile380Ser
XM_011533065.1:c.1403T>G	XP_011531367.1:p.Ile468Ser
XM_011533066.1:c.245T>G	XP_011531368.1:p.Ile82Ser
XM_005264515.4:c.1310T>G	XP_005264572.1:p.Ile437Ser
XM_011533062.2:c.1289T>G	XP_011531364.1:p.Ile430Ser
XM_011533064.2:c.1139T>G	XP_011531366.1:p.Ile380Ser
NM_001382394.1:c.1289T>G	NP_001369323.1:p.Ile430Ser
NM_001382395.1:c.1310T>G	NP_001369324.1:p.Ile437Ser
NM_005633.4:c.1310T>G MANE Select	NP_005624.2:p.Ile437Ser