Canonical Allele Identifier: CA346366232

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250159G>C (hg19) ; chr2:g.39023018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023018G>C , CM000664.2:g.39023018G>C	GRCh38
NC_000002.11:g.39250159G>C , CM000664.1:g.39250159G>C	GRCh37
NC_000002.10:g.39103663G>C	NCBI36
NG_007530.1:g.102446C>G , LRG_754:g.102446C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1290C>G
ENST00000685279.1:c.177C>G	ENSP00000509424.1:p.Cys59Trp
ENST00000688043.1:n.1631C>G
ENST00000689668.1:n.1417C>G
ENST00000690876.1:c.1299C>G	ENSP00000508955.1:p.Cys433Trp
ENST00000691229.1:c.1299C>G	ENSP00000510437.1:p.Cys433Trp
ENST00000692089.1:c.1299C>G	ENSP00000508626.1:p.Cys433Trp
ENST00000692620.1:c.177C>G	ENSP00000509311.1:p.Cys59Trp
ENST00000402219.8:c.1410C>G MANE Select	ENSP00000384675.2:p.Cys470Trp
ENST00000395038.6:c.1410C>G	ENSP00000378479.2:p.Cys470Trp
ENST00000402219.6:c.1410C>G	ENSP00000384675.2:p.Cys470Trp
ENST00000426016.5:c.1410C>G	ENSP00000387784.1:p.Cys470Trp
ENST00000472480.1:n.254C>G
NM_005633.3:c.1410C>G , LRG_754t1:c.1410C>G	NP_005624.2:p.Cys470Trp
XM_005264515.3:c.1410C>G	XP_005264572.1:p.Cys470Trp
XM_011533060.1:c.1503C>G	XP_011531362.1:p.Cys501Trp
XM_011533061.1:c.1503C>G	XP_011531363.1:p.Cys501Trp
XM_011533062.1:c.1389C>G	XP_011531364.1:p.Cys463Trp
XM_011533063.1:c.1386C>G	XP_011531365.1:p.Cys462Trp
XM_011533064.1:c.1239C>G	XP_011531366.1:p.Cys413Trp
XM_011533065.1:c.1503C>G	XP_011531367.1:p.Cys501Trp
XM_011533066.1:c.345C>G	XP_011531368.1:p.Cys115Trp
XM_005264515.4:c.1410C>G	XP_005264572.1:p.Cys470Trp
XM_011533062.2:c.1389C>G	XP_011531364.1:p.Cys463Trp
XM_011533064.2:c.1239C>G	XP_011531366.1:p.Cys413Trp
NM_001382394.1:c.1389C>G	NP_001369323.1:p.Cys463Trp
NM_001382395.1:c.1410C>G	NP_001369324.1:p.Cys470Trp
NM_005633.4:c.1410C>G MANE Select	NP_005624.2:p.Cys470Trp