Canonical Allele Identifier: CA297207

Gene: SOS1

Linked Data

• ClinVar Variation Id: 181537
• ClinVar RCV Id: RCV000159128 ; RCV002516396
• dbSNP Id: rs730881027
• gnomAD v3: 2-39012237-G-A
• gnomAD v4: 2-39012237-G-A
• MyVariant Identifiers: chr2:g.39239378G>A (hg19) ; chr2:g.39012237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39012237G>A , CM000664.2:g.39012237G>A	GRCh38
NC_000002.11:g.39239378G>A , CM000664.1:g.39239378G>A	GRCh37
NC_000002.10:g.39092882G>A	NCBI36
NG_007530.1:g.113227C>T , LRG_754:g.113227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.1046C>T	ENSP00000509424.1:p.Thr349Ile
ENST00000688043.1:n.3611C>T
ENST00000689668.1:n.2286C>T
ENST00000690514.1:n.368C>T
ENST00000690876.1:c.2168C>T	ENSP00000508955.1:p.Thr723Ile
ENST00000691229.1:c.2168C>T	ENSP00000510437.1:p.Thr723Ile
ENST00000692089.1:c.2168C>T	ENSP00000508626.1:p.Thr723Ile
ENST00000692620.1:c.934+1223C>T	ENSP00000509311.1:n.934+1223C>T
ENST00000402219.8:c.2279C>T MANE Select	ENSP00000384675.2:p.Thr760Ile
ENST00000395038.6:c.2279C>T	ENSP00000378479.2:p.Thr760Ile
ENST00000402219.6:c.2279C>T	ENSP00000384675.2:p.Thr760Ile
ENST00000426016.5:c.2279C>T	ENSP00000387784.1:p.Thr760Ile
NM_005633.3:c.2279C>T , LRG_754t1:c.2279C>T	NP_005624.2:p.Thr760Ile
XM_005264515.3:c.2279C>T	XP_005264572.1:p.Thr760Ile
XM_011533060.1:c.2372C>T	XP_011531362.1:p.Thr791Ile
XM_011533061.1:c.2372C>T	XP_011531363.1:p.Thr791Ile
XM_011533062.1:c.2258C>T	XP_011531364.1:p.Thr753Ile
XM_011533063.1:c.2255C>T	XP_011531365.1:p.Thr752Ile
XM_011533064.1:c.2108C>T	XP_011531366.1:p.Thr703Ile
XM_011533065.1:c.2372C>T	XP_011531367.1:p.Thr791Ile
XM_011533066.1:c.1214C>T	XP_011531368.1:p.Thr405Ile
XM_005264515.4:c.2279C>T	XP_005264572.1:p.Thr760Ile
XM_011533062.2:c.2258C>T	XP_011531364.1:p.Thr753Ile
XM_011533064.2:c.2108C>T	XP_011531366.1:p.Thr703Ile
NM_001382394.1:c.2258C>T	NP_001369323.1:p.Thr753Ile
NM_001382395.1:c.2279C>T	NP_001369324.1:p.Thr760Ile
NM_005633.4:c.2279C>T MANE Select	NP_005624.2:p.Thr760Ile