Canonical Allele Identifier: CA10615198

Gene: SOS1

Linked Data

• ClinVar Variation Id: 335966
• ClinVar RCV Id: RCV000282540 ; RCV000337391 ; RCV002292532 ; RCV002487491
• dbSNP Id: rs1043800
• gnomAD v2: 2-39208942-A-G
• gnomAD v3: 2-38981801-A-G
• gnomAD v4: 2-38981801-A-G
• MyVariant Identifiers: chr2:g.39208942A>G (hg19) ; chr2:g.38981801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38981801A>G , CM000664.2:g.38981801A>G	GRCh38
NC_000002.11:g.39208942A>G , CM000664.1:g.39208942A>G	GRCh37
NC_000002.10:g.39062446A>G	NCBI36
NG_007530.1:g.143663T>C , LRG_754:g.143663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.*4023T>C	ENSP00000509424.1:n.*4023T>C
ENST00000692089.1:c.3399+5672T>C	ENSP00000508626.1:n.3399+5672T>C
ENST00000402219.8:c.*4023T>C MANE Select	ENSP00000384675.2:n.*4023T>C
ENST00000402219.6:c.*4023T>C	ENSP00000384675.2:n.*4023T>C
ENST00000426016.5:c.*4023T>C	ENSP00000387784.1:n.*4023T>C
NM_005633.3:c.*4023T>C , LRG_754t1:c.*4023T>C	NP_005624.2:n.*4023T>C
XM_005264515.3:c.*4023T>C	XP_005264572.1:n.*4023T>C
XM_011533060.1:c.*4023T>C	XP_011531362.1:n.*4023T>C
XM_011533061.1:c.*4023T>C	XP_011531363.1:n.*4023T>C
XM_011533062.1:c.*4023T>C	XP_011531364.1:n.*4023T>C
XM_011533063.1:c.*4023T>C	XP_011531365.1:n.*4023T>C
XM_011533064.1:c.*4023T>C	XP_011531366.1:n.*4023T>C
XM_011533065.1:c.*3509T>C	XP_011531367.1:n.*3509T>C
XM_011533066.1:c.*4023T>C	XP_011531368.1:n.*4023T>C
NM_001382394.1:c.*4023T>C	NP_001369323.1:n.*4023T>C
NM_001382395.1:c.*4023T>C	NP_001369324.1:n.*4023T>C
NM_005633.4:c.*4023T>C MANE Select	NP_005624.2:n.*4023T>C