Canonical Allele Identifier: CA297261

Gene: SOS1

Linked Data

• ClinVar Variation Id: 181550
• ClinVar RCV Id: RCV000159160 ; RCV000795849 ; RCV001330104 ; RCV002372038 ; RCV002467632
• dbSNP Id: rs730881042
• ExAC: 2:39250298 T / C
• gnomAD v2: 2-39250298-T-C
• gnomAD v3: 2-39023157-T-C
• gnomAD v4: 2-39023157-T-C
• MyVariant Identifiers: chr2:g.39250298T>C (hg19) ; chr2:g.39023157T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023157T>C , CM000664.2:g.39023157T>C	GRCh38
NC_000002.11:g.39250298T>C , CM000664.1:g.39250298T>C	GRCh37
NC_000002.10:g.39103802T>C	NCBI36
NG_007530.1:g.102307A>G , LRG_754:g.102307A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1151A>G
ENST00000685279.1:c.38A>G	ENSP00000509424.1:p.Glu13Gly
ENST00000688043.1:n.1492A>G
ENST00000689668.1:n.1278A>G
ENST00000690679.1:c.1458A>G
ENST00000690876.1:c.1160A>G	ENSP00000508955.1:p.Glu387Gly
ENST00000691229.1:c.1160A>G	ENSP00000510437.1:p.Glu387Gly
ENST00000692089.1:c.1160A>G	ENSP00000508626.1:p.Glu387Gly
ENST00000692620.1:c.38A>G	ENSP00000509311.1:p.Glu13Gly
ENST00000402219.8:c.1271A>G MANE Select	ENSP00000384675.2:p.Glu424Gly
ENST00000395038.6:c.1271A>G	ENSP00000378479.2:p.Glu424Gly
ENST00000402219.6:c.1271A>G	ENSP00000384675.2:p.Glu424Gly
ENST00000426016.5:c.1271A>G	ENSP00000387784.1:p.Glu424Gly
ENST00000472480.1:n.115A>G
NM_005633.3:c.1271A>G , LRG_754t1:c.1271A>G	NP_005624.2:p.Glu424Gly
XM_005264515.3:c.1271A>G	XP_005264572.1:p.Glu424Gly
XM_011533060.1:c.1364A>G	XP_011531362.1:p.Glu455Gly
XM_011533061.1:c.1364A>G	XP_011531363.1:p.Glu455Gly
XM_011533062.1:c.1250A>G	XP_011531364.1:p.Glu417Gly
XM_011533063.1:c.1247A>G	XP_011531365.1:p.Glu416Gly
XM_011533064.1:c.1100A>G	XP_011531366.1:p.Glu367Gly
XM_011533065.1:c.1364A>G	XP_011531367.1:p.Glu455Gly
XM_011533066.1:c.206A>G	XP_011531368.1:p.Glu69Gly
XM_005264515.4:c.1271A>G	XP_005264572.1:p.Glu424Gly
XM_011533062.2:c.1250A>G	XP_011531364.1:p.Glu417Gly
XM_011533064.2:c.1100A>G	XP_011531366.1:p.Glu367Gly
NM_001382394.1:c.1250A>G	NP_001369323.1:p.Glu417Gly
NM_001382395.1:c.1271A>G	NP_001369324.1:p.Glu424Gly
NM_005633.4:c.1271A>G MANE Select	NP_005624.2:p.Glu424Gly