Canonical Allele Identifier: CA261736

Gene: SOS1

Linked Data

• ClinVar Variation Id: 45358
• ClinVar RCV Id: RCV000038544
• dbSNP Id: rs397517163
• MyVariant Identifiers: chr2:g.39224122A>G (hg19) ; chr2:g.38996981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38996981A>G , CM000664.2:g.38996981A>G	GRCh38
NC_000002.11:g.39224122A>G , CM000664.1:g.39224122A>G	GRCh37
NC_000002.10:g.39077626A>G	NCBI36
NG_007530.1:g.128483T>C , LRG_754:g.128483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1789T>C	ENSP00000509424.1:p.Tyr597His
ENST00000689668.1:n.3029T>C
ENST00000690876.1:c.*328T>C	ENSP00000508955.1:n.*328T>C
ENST00000691229.1:c.2791T>C	ENSP00000510437.1:p.Tyr931His
ENST00000692089.1:c.2911T>C	ENSP00000508626.1:p.Tyr971His
ENST00000692227.1:c.718T>C	ENSP00000509138.1:p.Tyr240His
ENST00000692620.1:c.*609T>C	ENSP00000509311.1:n.*609T>C
ENST00000402219.8:c.3022T>C MANE Select	ENSP00000384675.2:p.Tyr1008His
ENST00000395038.6:c.3022T>C	ENSP00000378479.2:p.Tyr1008His
ENST00000402219.6:c.3022T>C	ENSP00000384675.2:p.Tyr1008His
ENST00000426016.5:c.3022T>C	ENSP00000387784.1:p.Tyr1008His
NM_005633.3:c.3022T>C , LRG_754t1:c.3022T>C	NP_005624.2:p.Tyr1008His
XM_005264515.3:c.3022T>C	XP_005264572.1:p.Tyr1008His
XM_011533060.1:c.3115T>C	XP_011531362.1:p.Tyr1039His
XM_011533061.1:c.3115T>C	XP_011531363.1:p.Tyr1039His
XM_011533062.1:c.3001T>C	XP_011531364.1:p.Tyr1001His
XM_011533063.1:c.2998T>C	XP_011531365.1:p.Tyr1000His
XM_011533064.1:c.2851T>C	XP_011531366.1:p.Tyr951His
XM_011533065.1:c.3115T>C	XP_011531367.1:p.Tyr1039His
XM_011533066.1:c.1957T>C	XP_011531368.1:p.Tyr653His
XM_005264515.4:c.3022T>C	XP_005264572.1:p.Tyr1008His
XM_011533062.2:c.3001T>C	XP_011531364.1:p.Tyr1001His
XM_011533064.2:c.2851T>C	XP_011531366.1:p.Tyr951His
NM_001382394.1:c.3001T>C	NP_001369323.1:p.Tyr1001His
NM_001382395.1:c.3022T>C	NP_001369324.1:p.Tyr1008His
NM_005633.4:c.3022T>C MANE Select	NP_005624.2:p.Tyr1008His