Canonical Allele Identifier: CA346372960

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39281783A>C (hg19) ; chr2:g.39054642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054642A>C , CM000664.2:g.39054642A>C	GRCh38
NC_000002.11:g.39281783A>C , CM000664.1:g.39281783A>C	GRCh37
NC_000002.10:g.39135287A>C	NCBI36
NG_007530.1:g.70822T>G , LRG_754:g.70822T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.719T>G
ENST00000685782.1:n.1530T>G
ENST00000688189.1:n.457T>G
ENST00000689668.1:n.699T>G
ENST00000690679.1:c.792T>G
ENST00000690876.1:c.692T>G	ENSP00000508955.1:p.Val231Gly
ENST00000691229.1:c.692T>G	ENSP00000510437.1:p.Val231Gly
ENST00000692089.1:c.692T>G	ENSP00000508626.1:p.Val231Gly
ENST00000402219.8:c.692T>G MANE Select	ENSP00000384675.2:p.Val231Gly
ENST00000395038.6:c.692T>G	ENSP00000378479.2:p.Val231Gly
ENST00000402219.6:c.692T>G	ENSP00000384675.2:p.Val231Gly
ENST00000426016.5:c.692T>G	ENSP00000387784.1:p.Val231Gly
NM_005633.3:c.692T>G , LRG_754t1:c.692T>G	NP_005624.2:p.Val231Gly
XM_005264515.3:c.692T>G	XP_005264572.1:p.Val231Gly
XM_011533060.1:c.785T>G	XP_011531362.1:p.Val262Gly
XM_011533061.1:c.785T>G	XP_011531363.1:p.Val262Gly
XM_011533062.1:c.671T>G	XP_011531364.1:p.Val224Gly
XM_011533063.1:c.668T>G	XP_011531365.1:p.Val223Gly
XM_011533064.1:c.521T>G	XP_011531366.1:p.Val174Gly
XM_011533065.1:c.785T>G	XP_011531367.1:p.Val262Gly
XM_005264515.4:c.692T>G	XP_005264572.1:p.Val231Gly
XM_011533062.2:c.671T>G	XP_011531364.1:p.Val224Gly
XM_011533064.2:c.521T>G	XP_011531366.1:p.Val174Gly
NM_001382394.1:c.671T>G	NP_001369323.1:p.Val224Gly
NM_001382395.1:c.692T>G	NP_001369324.1:p.Val231Gly
NM_005633.4:c.692T>G MANE Select	NP_005624.2:p.Val231Gly