Canonical Allele Identifier: CA346373029

Gene: SOS1

Linked Data

• dbSNP Id: rs1007628403
• gnomAD v2: 2-39281814-G-C
• gnomAD v4: 2-39054673-G-C
• MyVariant Identifiers: chr2:g.39281814G>C (hg19) ; chr2:g.39054673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054673G>C , CM000664.2:g.39054673G>C	GRCh38
NC_000002.11:g.39281814G>C , CM000664.1:g.39281814G>C	GRCh37
NC_000002.10:g.39135318G>C	NCBI36
NG_007530.1:g.70791C>G , LRG_754:g.70791C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.688C>G
ENST00000685782.1:n.1499C>G
ENST00000688189.1:n.426C>G
ENST00000689668.1:n.668C>G
ENST00000690679.1:c.761C>G
ENST00000690876.1:c.661C>G	ENSP00000508955.1:p.Leu221Val
ENST00000691229.1:c.661C>G	ENSP00000510437.1:p.Leu221Val
ENST00000692089.1:c.661C>G	ENSP00000508626.1:p.Leu221Val
ENST00000402219.8:c.661C>G MANE Select	ENSP00000384675.2:p.Leu221Val
ENST00000395038.6:c.661C>G	ENSP00000378479.2:p.Leu221Val
ENST00000402219.6:c.661C>G	ENSP00000384675.2:p.Leu221Val
ENST00000426016.5:c.661C>G	ENSP00000387784.1:p.Leu221Val
NM_005633.3:c.661C>G , LRG_754t1:c.661C>G	NP_005624.2:p.Leu221Val
XM_005264515.3:c.661C>G	XP_005264572.1:p.Leu221Val
XM_011533060.1:c.754C>G	XP_011531362.1:p.Leu252Val
XM_011533061.1:c.754C>G	XP_011531363.1:p.Leu252Val
XM_011533062.1:c.640C>G	XP_011531364.1:p.Leu214Val
XM_011533063.1:c.637C>G	XP_011531365.1:p.Leu213Val
XM_011533064.1:c.490C>G	XP_011531366.1:p.Leu164Val
XM_011533065.1:c.754C>G	XP_011531367.1:p.Leu252Val
XM_005264515.4:c.661C>G	XP_005264572.1:p.Leu221Val
XM_011533062.2:c.640C>G	XP_011531364.1:p.Leu214Val
XM_011533064.2:c.490C>G	XP_011531366.1:p.Leu164Val
NM_001382394.1:c.640C>G	NP_001369323.1:p.Leu214Val
NM_001382395.1:c.661C>G	NP_001369324.1:p.Leu221Val
NM_005633.4:c.661C>G MANE Select	NP_005624.2:p.Leu221Val