Canonical Allele Identifier: CA10613332

Gene: SOS1

Linked Data

• ClinVar Variation Id: 335998
• ClinVar RCV Id: RCV000312429 ; RCV000394415 ; RCV002504135 ; RCV003422317
• dbSNP Id: rs115153488
• gnomAD v2: 2-39211662-G-T
• gnomAD v3: 2-38984521-G-T
• gnomAD v4: 2-38984521-G-T
• MyVariant Identifiers: chr2:g.39211662G>T (hg19) ; chr2:g.38984521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38984521G>T , CM000664.2:g.38984521G>T	GRCh38
NC_000002.11:g.39211662G>T , CM000664.1:g.39211662G>T	GRCh37
NC_000002.10:g.39065166G>T	NCBI36
NG_007530.1:g.140943C>A , LRG_754:g.140943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.*1303C>A	ENSP00000509424.1:n.*1303C>A
ENST00000686849.1:n.2096C>A
ENST00000690876.1:c.*2611C>A	ENSP00000508955.1:n.*2611C>A
ENST00000692089.1:c.3399+2952C>A	ENSP00000508626.1:n.3399+2952C>A
ENST00000402219.8:c.*1303C>A MANE Select	ENSP00000384675.2:n.*1303C>A
ENST00000402219.6:c.*1303C>A	ENSP00000384675.2:n.*1303C>A
ENST00000426016.5:c.*1303C>A	ENSP00000387784.1:n.*1303C>A
NM_005633.3:c.*1303C>A , LRG_754t1:c.*1303C>A	NP_005624.2:n.*1303C>A
XM_005264515.3:c.*1303C>A	XP_005264572.1:n.*1303C>A
XM_011533060.1:c.*1303C>A	XP_011531362.1:n.*1303C>A
XM_011533061.1:c.*1303C>A	XP_011531363.1:n.*1303C>A
XM_011533062.1:c.*1303C>A	XP_011531364.1:n.*1303C>A
XM_011533063.1:c.*1303C>A	XP_011531365.1:n.*1303C>A
XM_011533064.1:c.*1303C>A	XP_011531366.1:n.*1303C>A
XM_011533065.1:c.*789C>A	XP_011531367.1:n.*789C>A
XM_011533066.1:c.*1303C>A	XP_011531368.1:n.*1303C>A
XM_005264515.4:c.*1303C>A	XP_005264572.1:n.*1303C>A
XM_011533062.2:c.*1303C>A	XP_011531364.1:n.*1303C>A
XM_011533064.2:c.*1303C>A	XP_011531366.1:n.*1303C>A
NM_001382394.1:c.*1303C>A	NP_001369323.1:n.*1303C>A
NM_001382395.1:c.*1303C>A	NP_001369324.1:n.*1303C>A
NM_005633.4:c.*1303C>A MANE Select	NP_005624.2:n.*1303C>A