Canonical Allele Identifier: CA425866774

Gene: SOS1

Linked Data

• dbSNP Id: rs1432437086
• gnomAD v2: 2-39250078-T-G
• gnomAD v4: 2-39022937-T-G
• MyVariant Identifiers: chr2:g.39250078T>G (hg19) ; chr2:g.39022937T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022937T>G , CM000664.2:g.39022937T>G	GRCh38
NC_000002.11:g.39250078T>G , CM000664.1:g.39250078T>G	GRCh37
NC_000002.10:g.39103582T>G	NCBI36
NG_007530.1:g.102527A>C , LRG_754:g.102527A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1371A>C
ENST00000685279.1:c.258A>C	ENSP00000509424.1:p.Arg86=
ENST00000688043.1:n.1712A>C
ENST00000689668.1:n.1498A>C
ENST00000690876.1:c.1380A>C	ENSP00000508955.1:p.Arg460=
ENST00000691229.1:c.1380A>C	ENSP00000510437.1:p.Arg460=
ENST00000692089.1:c.1380A>C	ENSP00000508626.1:p.Arg460=
ENST00000692620.1:c.258A>C	ENSP00000509311.1:p.Arg86=
ENST00000402219.8:c.1491A>C MANE Select	ENSP00000384675.2:p.Arg497=
ENST00000395038.6:c.1491A>C	ENSP00000378479.2:p.Arg497=
ENST00000402219.6:c.1491A>C	ENSP00000384675.2:p.Arg497=
ENST00000426016.5:c.1491A>C	ENSP00000387784.1:p.Arg497=
ENST00000472480.1:n.335A>C
NM_005633.3:c.1491A>C , LRG_754t1:c.1491A>C	NP_005624.2:p.Arg497=
XM_005264515.3:c.1491A>C	XP_005264572.1:p.Arg497=
XM_011533060.1:c.1584A>C	XP_011531362.1:p.Arg528=
XM_011533061.1:c.1584A>C	XP_011531363.1:p.Arg528=
XM_011533062.1:c.1470A>C	XP_011531364.1:p.Arg490=
XM_011533063.1:c.1467A>C	XP_011531365.1:p.Arg489=
XM_011533064.1:c.1320A>C	XP_011531366.1:p.Arg440=
XM_011533065.1:c.1584A>C	XP_011531367.1:p.Arg528=
XM_011533066.1:c.426A>C	XP_011531368.1:p.Arg142=
XM_005264515.4:c.1491A>C	XP_005264572.1:p.Arg497=
XM_011533062.2:c.1470A>C	XP_011531364.1:p.Arg490=
XM_011533064.2:c.1320A>C	XP_011531366.1:p.Arg440=
NM_001382394.1:c.1470A>C	NP_001369323.1:p.Arg490=
NM_001382395.1:c.1491A>C	NP_001369324.1:p.Arg497=
NM_005633.4:c.1491A>C MANE Select	NP_005624.2:p.Arg497=