Canonical Allele Identifier: CA346366560

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2567927
• ClinVar RCV Id: RCV003283411
• gnomAD v4: 2-39023159-G-T
• MyVariant Identifiers: chr2:g.39250300G>T (hg19) ; chr2:g.39023159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023159G>T , CM000664.2:g.39023159G>T	GRCh38
NC_000002.11:g.39250300G>T , CM000664.1:g.39250300G>T	GRCh37
NC_000002.10:g.39103804G>T	NCBI36
NG_007530.1:g.102305C>A , LRG_754:g.102305C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1149C>A
ENST00000685279.1:c.36C>A	ENSP00000509424.1:p.Asn12Lys
ENST00000688043.1:n.1490C>A
ENST00000689668.1:n.1276C>A
ENST00000690679.1:c.1456C>A
ENST00000690876.1:c.1158C>A	ENSP00000508955.1:p.Asn386Lys
ENST00000691229.1:c.1158C>A	ENSP00000510437.1:p.Asn386Lys
ENST00000692089.1:c.1158C>A	ENSP00000508626.1:p.Asn386Lys
ENST00000692620.1:c.36C>A	ENSP00000509311.1:p.Asn12Lys
ENST00000402219.8:c.1269C>A MANE Select	ENSP00000384675.2:p.Asn423Lys
ENST00000395038.6:c.1269C>A	ENSP00000378479.2:p.Asn423Lys
ENST00000402219.6:c.1269C>A	ENSP00000384675.2:p.Asn423Lys
ENST00000426016.5:c.1269C>A	ENSP00000387784.1:p.Asn423Lys
ENST00000472480.1:n.113C>A
NM_005633.3:c.1269C>A , LRG_754t1:c.1269C>A	NP_005624.2:p.Asn423Lys
XM_005264515.3:c.1269C>A	XP_005264572.1:p.Asn423Lys
XM_011533060.1:c.1362C>A	XP_011531362.1:p.Asn454Lys
XM_011533061.1:c.1362C>A	XP_011531363.1:p.Asn454Lys
XM_011533062.1:c.1248C>A	XP_011531364.1:p.Asn416Lys
XM_011533063.1:c.1245C>A	XP_011531365.1:p.Asn415Lys
XM_011533064.1:c.1098C>A	XP_011531366.1:p.Asn366Lys
XM_011533065.1:c.1362C>A	XP_011531367.1:p.Asn454Lys
XM_011533066.1:c.204C>A	XP_011531368.1:p.Asn68Lys
XM_005264515.4:c.1269C>A	XP_005264572.1:p.Asn423Lys
XM_011533062.2:c.1248C>A	XP_011531364.1:p.Asn416Lys
XM_011533064.2:c.1098C>A	XP_011531366.1:p.Asn366Lys
NM_001382394.1:c.1248C>A	NP_001369323.1:p.Asn416Lys
NM_001382395.1:c.1269C>A	NP_001369324.1:p.Asn423Lys
NM_005633.4:c.1269C>A MANE Select	NP_005624.2:p.Asn423Lys