Canonical Allele Identifier: CA235348

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40669
• ClinVar RCV Id: RCV000038513 ; RCV000157692 ; RCV000467110 ; RCV002467509 ; RCV003450658 ; RCV001813285
• dbSNP Id: rs397517147
• gnomAD v2: 2-39250272-C-T
• gnomAD v4: 2-39023131-C-T
• COSMIC: COSM39225
• MyVariant Identifiers: chr2:g.39250272C>T (hg19) ; chr2:g.39023131C>T (hg38)
• PubMed: PMID:17143282 ; PMID:18456719 ; PMID:18772396 ; PMID:19020799 ; PMID:19953625 ; PMID:20133692

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023131C>T , CM000664.2:g.39023131C>T	GRCh38
NC_000002.11:g.39250272C>T , CM000664.1:g.39250272C>T	GRCh37
NC_000002.10:g.39103776C>T	NCBI36
NG_007530.1:g.102333G>A , LRG_754:g.102333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1177G>A
ENST00000685279.1:c.64G>A	ENSP00000509424.1:p.Glu22Lys
ENST00000688043.1:n.1518G>A
ENST00000689668.1:n.1304G>A
ENST00000690876.1:c.1186G>A	ENSP00000508955.1:p.Glu396Lys
ENST00000691229.1:c.1186G>A	ENSP00000510437.1:p.Glu396Lys
ENST00000692089.1:c.1186G>A	ENSP00000508626.1:p.Glu396Lys
ENST00000692620.1:c.64G>A	ENSP00000509311.1:p.Glu22Lys
ENST00000402219.8:c.1297G>A MANE Select	ENSP00000384675.2:p.Glu433Lys
ENST00000395038.6:c.1297G>A	ENSP00000378479.2:p.Glu433Lys
ENST00000402219.6:c.1297G>A	ENSP00000384675.2:p.Glu433Lys
ENST00000426016.5:c.1297G>A	ENSP00000387784.1:p.Glu433Lys
ENST00000472480.1:n.141G>A
NM_005633.3:c.1297G>A , LRG_754t1:c.1297G>A	NP_005624.2:p.Glu433Lys
XM_005264515.3:c.1297G>A	XP_005264572.1:p.Glu433Lys
XM_011533060.1:c.1390G>A	XP_011531362.1:p.Glu464Lys
XM_011533061.1:c.1390G>A	XP_011531363.1:p.Glu464Lys
XM_011533062.1:c.1276G>A	XP_011531364.1:p.Glu426Lys
XM_011533063.1:c.1273G>A	XP_011531365.1:p.Glu425Lys
XM_011533064.1:c.1126G>A	XP_011531366.1:p.Glu376Lys
XM_011533065.1:c.1390G>A	XP_011531367.1:p.Glu464Lys
XM_011533066.1:c.232G>A	XP_011531368.1:p.Glu78Lys
XM_005264515.4:c.1297G>A	XP_005264572.1:p.Glu433Lys
XM_011533062.2:c.1276G>A	XP_011531364.1:p.Glu426Lys
XM_011533064.2:c.1126G>A	XP_011531366.1:p.Glu376Lys
NM_001382394.1:c.1276G>A	NP_001369323.1:p.Glu426Lys
NM_001382395.1:c.1297G>A	NP_001369324.1:p.Glu433Lys
NM_005633.4:c.1297G>A MANE Select	NP_005624.2:p.Glu433Lys