Canonical Allele Identifier: CA346373149

Gene: SOS1

Linked Data

• ClinVar Variation Id: 981557
• ClinVar RCV Id: RCV001261070
• MyVariant Identifiers: chr2:g.39281867T>C (hg19) ; chr2:g.39054726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054726T>C , CM000664.2:g.39054726T>C	GRCh38
NC_000002.11:g.39281867T>C , CM000664.1:g.39281867T>C	GRCh37
NC_000002.10:g.39135371T>C	NCBI36
NG_007530.1:g.70738A>G , LRG_754:g.70738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.635A>G
ENST00000685782.1:n.1446A>G
ENST00000688189.1:n.373A>G
ENST00000689668.1:n.615A>G
ENST00000690679.1:c.708A>G
ENST00000690876.1:c.608A>G	ENSP00000508955.1:p.Asp203Gly
ENST00000691229.1:c.608A>G	ENSP00000510437.1:p.Asp203Gly
ENST00000692089.1:c.608A>G	ENSP00000508626.1:p.Asp203Gly
ENST00000402219.8:c.608A>G MANE Select	ENSP00000384675.2:p.Asp203Gly
ENST00000395038.6:c.608A>G	ENSP00000378479.2:p.Asp203Gly
ENST00000402219.6:c.608A>G	ENSP00000384675.2:p.Asp203Gly
ENST00000426016.5:c.608A>G	ENSP00000387784.1:p.Asp203Gly
NM_005633.3:c.608A>G , LRG_754t1:c.608A>G	NP_005624.2:p.Asp203Gly
XM_005264515.3:c.608A>G	XP_005264572.1:p.Asp203Gly
XM_011533060.1:c.701A>G	XP_011531362.1:p.Asp234Gly
XM_011533061.1:c.701A>G	XP_011531363.1:p.Asp234Gly
XM_011533062.1:c.587A>G	XP_011531364.1:p.Asp196Gly
XM_011533063.1:c.584A>G	XP_011531365.1:p.Asp195Gly
XM_011533064.1:c.437A>G	XP_011531366.1:p.Asp146Gly
XM_011533065.1:c.701A>G	XP_011531367.1:p.Asp234Gly
XM_005264515.4:c.608A>G	XP_005264572.1:p.Asp203Gly
XM_011533062.2:c.587A>G	XP_011531364.1:p.Asp196Gly
XM_011533064.2:c.437A>G	XP_011531366.1:p.Asp146Gly
NM_001382394.1:c.587A>G	NP_001369323.1:p.Asp196Gly
NM_001382395.1:c.608A>G	NP_001369324.1:p.Asp203Gly
NM_005633.4:c.608A>G MANE Select	NP_005624.2:p.Asp203Gly