Canonical Allele Identifier: CA136143

Gene: SOS1

Linked Data

• ClinVar Variation Id: 45365
• ClinVar RCV Id: RCV000038553 ; RCV002272040 ; RCV003539774
• dbSNP Id: rs141594736
• ExAC: 2:39213367 G / T
• gnomAD v2: 2-39213367-G-T
• gnomAD v3: 2-38986226-G-T
• gnomAD v4: 2-38986226-G-T
• MyVariant Identifiers: chr2:g.39213367G>T (hg19) ; chr2:g.38986226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38986226G>T , CM000664.2:g.38986226G>T	GRCh38
NC_000002.11:g.39213367G>T , CM000664.1:g.39213367G>T	GRCh37
NC_000002.10:g.39066871G>T	NCBI36
NG_007530.1:g.139238C>A , LRG_754:g.139238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.2367C>A	ENSP00000509424.1:p.Asp789Glu
ENST00000686849.1:n.391C>A
ENST00000690876.1:c.*906C>A	ENSP00000508955.1:n.*906C>A
ENST00000692089.1:c.3399+1247C>A	ENSP00000508626.1:n.3399+1247C>A
ENST00000692227.1:c.1162-863C>A	ENSP00000509138.1:n.1162-863C>A
ENST00000402219.8:c.3600C>A MANE Select	ENSP00000384675.2:p.Asp1200Glu
ENST00000395038.6:c.3555C>A	ENSP00000378479.2:p.Asp1185Glu
ENST00000402219.6:c.3600C>A	ENSP00000384675.2:p.Asp1200Glu
ENST00000426016.5:c.3600C>A	ENSP00000387784.1:p.Asp1200Glu
ENST00000469581.1:n.343C>A
NM_005633.3:c.3600C>A , LRG_754t1:c.3600C>A	NP_005624.2:p.Asp1200Glu
XM_005264515.3:c.3555C>A	XP_005264572.1:p.Asp1185Glu
XM_011533060.1:c.3693C>A	XP_011531362.1:p.Asp1231Glu
XM_011533061.1:c.3648C>A	XP_011531363.1:p.Asp1216Glu
XM_011533062.1:c.3579C>A	XP_011531364.1:p.Asp1193Glu
XM_011533063.1:c.3576C>A	XP_011531365.1:p.Asp1192Glu
XM_011533064.1:c.3429C>A	XP_011531366.1:p.Asp1143Glu
XM_011533065.1:c.3604-863C>A	XP_011531367.1:n.3604-863C>A
XM_011533066.1:c.2535C>A	XP_011531368.1:p.Asp845Glu
XM_005264515.4:c.3555C>A	XP_005264572.1:p.Asp1185Glu
XM_011533062.2:c.3579C>A	XP_011531364.1:p.Asp1193Glu
XM_011533064.2:c.3429C>A	XP_011531366.1:p.Asp1143Glu
NM_001382394.1:c.3579C>A	NP_001369323.1:p.Asp1193Glu
NM_001382395.1:c.3555C>A	NP_001369324.1:p.Asp1185Glu
NM_005633.4:c.3600C>A MANE Select	NP_005624.2:p.Asp1200Glu