Canonical Allele Identifier: CA45674165

Gene: SOS1

Linked Data

• dbSNP Id: rs915742246
• gnomAD v2: 2-39249518-A-T
• gnomAD v3: 2-39022377-A-T
• gnomAD v4: 2-39022377-A-T
• MyVariant Identifiers: chr2:g.39249518A>T (hg19) ; chr2:g.39022377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022377A>T , CM000664.2:g.39022377A>T	GRCh38
NC_000002.11:g.39249518A>T , CM000664.1:g.39249518A>T	GRCh37
NC_000002.10:g.39103022A>T	NCBI36
NG_007530.1:g.103087T>A , LRG_754:g.103087T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1931T>A
ENST00000685279.1:c.625+193T>A	ENSP00000509424.1:n.625+193T>A
ENST00000688043.1:n.2079+193T>A
ENST00000689668.1:n.1865+193T>A
ENST00000690876.1:c.1747+193T>A	ENSP00000508955.1:n.1747+193T>A
ENST00000691229.1:c.1747+193T>A	ENSP00000510437.1:n.1747+193T>A
ENST00000692089.1:c.1747+193T>A	ENSP00000508626.1:n.1747+193T>A
ENST00000692620.1:c.625+193T>A	ENSP00000509311.1:n.625+193T>A
ENST00000402219.8:c.1858+193T>A MANE Select	ENSP00000384675.2:n.1858+193T>A
ENST00000395038.6:c.1858+193T>A	ENSP00000378479.2:n.1858+193T>A
ENST00000402219.6:c.1858+193T>A	ENSP00000384675.2:n.1858+193T>A
ENST00000426016.5:c.1858+193T>A	ENSP00000387784.1:n.1858+193T>A
NM_005633.3:c.1858+193T>A , LRG_754t1:c.1858+193T>A	NP_005624.2:n.1858+193T>A
XM_005264515.3:c.1858+193T>A	XP_005264572.1:n.1858+193T>A
XM_011533060.1:c.1951+193T>A	XP_011531362.1:n.1951+193T>A
XM_011533061.1:c.1951+193T>A	XP_011531363.1:n.1951+193T>A
XM_011533062.1:c.1837+193T>A	XP_011531364.1:n.1837+193T>A
XM_011533063.1:c.1834+193T>A	XP_011531365.1:n.1834+193T>A
XM_011533064.1:c.1687+193T>A	XP_011531366.1:n.1687+193T>A
XM_011533065.1:c.1951+193T>A	XP_011531367.1:n.1951+193T>A
XM_011533066.1:c.793+193T>A	XP_011531368.1:n.793+193T>A
XM_005264515.4:c.1858+193T>A	XP_005264572.1:n.1858+193T>A
XM_011533062.2:c.1837+193T>A	XP_011531364.1:n.1837+193T>A
XM_011533064.2:c.1687+193T>A	XP_011531366.1:n.1687+193T>A
NM_001382394.1:c.1837+193T>A	NP_001369323.1:n.1837+193T>A
NM_001382395.1:c.1858+193T>A	NP_001369324.1:n.1858+193T>A
NM_005633.4:c.1858+193T>A MANE Select	NP_005624.2:n.1858+193T>A