Canonical Allele Identifier: CA10602848

Gene: SOS1

Linked Data

• ClinVar Variation Id: 280922
• ClinVar RCV Id: RCV000353861
• dbSNP Id: rs886042040
• gnomAD v4: 2-39023054-C-G
• MyVariant Identifiers: chr2:g.39250195C>G (hg19) ; chr2:g.39023054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023054C>G , CM000664.2:g.39023054C>G	GRCh38
NC_000002.11:g.39250195C>G , CM000664.1:g.39250195C>G	GRCh37
NC_000002.10:g.39103699C>G	NCBI36
NG_007530.1:g.102410G>C , LRG_754:g.102410G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1254G>C
ENST00000685279.1:c.141G>C	ENSP00000509424.1:p.Glu47Asp
ENST00000688043.1:n.1595G>C
ENST00000689668.1:n.1381G>C
ENST00000690876.1:c.1263G>C	ENSP00000508955.1:p.Glu421Asp
ENST00000691229.1:c.1263G>C	ENSP00000510437.1:p.Glu421Asp
ENST00000692089.1:c.1263G>C	ENSP00000508626.1:p.Glu421Asp
ENST00000692620.1:c.141G>C	ENSP00000509311.1:p.Glu47Asp
ENST00000402219.8:c.1374G>C MANE Select	ENSP00000384675.2:p.Glu458Asp
ENST00000395038.6:c.1374G>C	ENSP00000378479.2:p.Glu458Asp
ENST00000402219.6:c.1374G>C	ENSP00000384675.2:p.Glu458Asp
ENST00000426016.5:c.1374G>C	ENSP00000387784.1:p.Glu458Asp
ENST00000472480.1:n.218G>C
NM_005633.3:c.1374G>C , LRG_754t1:c.1374G>C	NP_005624.2:p.Glu458Asp
XM_005264515.3:c.1374G>C	XP_005264572.1:p.Glu458Asp
XM_011533060.1:c.1467G>C	XP_011531362.1:p.Glu489Asp
XM_011533061.1:c.1467G>C	XP_011531363.1:p.Glu489Asp
XM_011533062.1:c.1353G>C	XP_011531364.1:p.Glu451Asp
XM_011533063.1:c.1350G>C	XP_011531365.1:p.Glu450Asp
XM_011533064.1:c.1203G>C	XP_011531366.1:p.Glu401Asp
XM_011533065.1:c.1467G>C	XP_011531367.1:p.Glu489Asp
XM_011533066.1:c.309G>C	XP_011531368.1:p.Glu103Asp
XM_005264515.4:c.1374G>C	XP_005264572.1:p.Glu458Asp
XM_011533062.2:c.1353G>C	XP_011531364.1:p.Glu451Asp
XM_011533064.2:c.1203G>C	XP_011531366.1:p.Glu401Asp
NM_001382394.1:c.1353G>C	NP_001369323.1:p.Glu451Asp
NM_001382395.1:c.1374G>C	NP_001369324.1:p.Glu458Asp
NM_005633.4:c.1374G>C MANE Select	NP_005624.2:p.Glu458Asp