Canonical Allele Identifier: CA1624462

Gene: SOS1

Linked Data

• ClinVar Variation Id: 336019
• ClinVar RCV Id: RCV000325236 ; RCV000382206 ; RCV003654253
• dbSNP Id: rs571408451
• ExAC: 2:39240647 A / G
• gnomAD v2: 2-39240647-A-G
• gnomAD v3: 2-39013506-A-G
• gnomAD v4: 2-39013506-A-G
• MyVariant Identifiers: chr2:g.39240647A>G (hg19) ; chr2:g.39013506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013506A>G , CM000664.2:g.39013506A>G	GRCh38
NC_000002.11:g.39240647A>G , CM000664.1:g.39240647A>G	GRCh37
NC_000002.10:g.39094151A>G	NCBI36
NG_007530.1:g.111958T>C , LRG_754:g.111958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.888T>C	ENSP00000509424.1:p.Asp296=
ENST00000688043.1:n.2342T>C
ENST00000689668.1:n.2128T>C
ENST00000690514.1:n.210T>C
ENST00000690876.1:c.2010T>C	ENSP00000508955.1:p.Asp670=
ENST00000691229.1:c.2010T>C	ENSP00000510437.1:p.Asp670=
ENST00000692089.1:c.2010T>C	ENSP00000508626.1:p.Asp670=
ENST00000692620.1:c.888T>C	ENSP00000509311.1:p.Asp296=
ENST00000402219.8:c.2121T>C MANE Select	ENSP00000384675.2:p.Asp707=
ENST00000395038.6:c.2121T>C	ENSP00000378479.2:p.Asp707=
ENST00000402219.6:c.2121T>C	ENSP00000384675.2:p.Asp707=
ENST00000426016.5:c.2121T>C	ENSP00000387784.1:p.Asp707=
NM_005633.3:c.2121T>C , LRG_754t1:c.2121T>C	NP_005624.2:p.Asp707=
XM_005264515.3:c.2121T>C	XP_005264572.1:p.Asp707=
XM_011533060.1:c.2214T>C	XP_011531362.1:p.Asp738=
XM_011533061.1:c.2214T>C	XP_011531363.1:p.Asp738=
XM_011533062.1:c.2100T>C	XP_011531364.1:p.Asp700=
XM_011533063.1:c.2097T>C	XP_011531365.1:p.Asp699=
XM_011533064.1:c.1950T>C	XP_011531366.1:p.Asp650=
XM_011533065.1:c.2214T>C	XP_011531367.1:p.Asp738=
XM_011533066.1:c.1056T>C	XP_011531368.1:p.Asp352=
XM_005264515.4:c.2121T>C	XP_005264572.1:p.Asp707=
XM_011533062.2:c.2100T>C	XP_011531364.1:p.Asp700=
XM_011533064.2:c.1950T>C	XP_011531366.1:p.Asp650=
NM_001382394.1:c.2100T>C	NP_001369323.1:p.Asp700=
NM_001382395.1:c.2121T>C	NP_001369324.1:p.Asp707=
NM_005633.4:c.2121T>C MANE Select	NP_005624.2:p.Asp707=