Canonical Allele Identifier: CA346366514

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2501172
• ClinVar RCV Id: RCV003226769
• MyVariant Identifiers: chr2:g.39250281C>T (hg19) ; chr2:g.39023140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023140C>T , CM000664.2:g.39023140C>T	GRCh38
NC_000002.11:g.39250281C>T , CM000664.1:g.39250281C>T	GRCh37
NC_000002.10:g.39103785C>T	NCBI36
NG_007530.1:g.102324G>A , LRG_754:g.102324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1168G>A
ENST00000685279.1:c.55G>A	ENSP00000509424.1:p.Asp19Asn
ENST00000688043.1:n.1509G>A
ENST00000689668.1:n.1295G>A
ENST00000690876.1:c.1177G>A	ENSP00000508955.1:p.Asp393Asn
ENST00000691229.1:c.1177G>A	ENSP00000510437.1:p.Asp393Asn
ENST00000692089.1:c.1177G>A	ENSP00000508626.1:p.Asp393Asn
ENST00000692620.1:c.55G>A	ENSP00000509311.1:p.Asp19Asn
ENST00000402219.8:c.1288G>A MANE Select	ENSP00000384675.2:p.Asp430Asn
ENST00000395038.6:c.1288G>A	ENSP00000378479.2:p.Asp430Asn
ENST00000402219.6:c.1288G>A	ENSP00000384675.2:p.Asp430Asn
ENST00000426016.5:c.1288G>A	ENSP00000387784.1:p.Asp430Asn
ENST00000472480.1:n.132G>A
NM_005633.3:c.1288G>A , LRG_754t1:c.1288G>A	NP_005624.2:p.Asp430Asn
XM_005264515.3:c.1288G>A	XP_005264572.1:p.Asp430Asn
XM_011533060.1:c.1381G>A	XP_011531362.1:p.Asp461Asn
XM_011533061.1:c.1381G>A	XP_011531363.1:p.Asp461Asn
XM_011533062.1:c.1267G>A	XP_011531364.1:p.Asp423Asn
XM_011533063.1:c.1264G>A	XP_011531365.1:p.Asp422Asn
XM_011533064.1:c.1117G>A	XP_011531366.1:p.Asp373Asn
XM_011533065.1:c.1381G>A	XP_011531367.1:p.Asp461Asn
XM_011533066.1:c.223G>A	XP_011531368.1:p.Asp75Asn
XM_005264515.4:c.1288G>A	XP_005264572.1:p.Asp430Asn
XM_011533062.2:c.1267G>A	XP_011531364.1:p.Asp423Asn
XM_011533064.2:c.1117G>A	XP_011531366.1:p.Asp373Asn
NM_001382394.1:c.1267G>A	NP_001369323.1:p.Asp423Asn
NM_001382395.1:c.1288G>A	NP_001369324.1:p.Asp430Asn
NM_005633.4:c.1288G>A MANE Select	NP_005624.2:p.Asp430Asn