Canonical Allele Identifier: CA346365472

Gene: SOS1

Linked Data

• dbSNP Id: rs1477519893
• gnomAD v2: 2-39249820-T-G
• gnomAD v3: 2-39022679-T-G
• gnomAD v4: 2-39022679-T-G
• MyVariant Identifiers: chr2:g.39249820T>G (hg19) ; chr2:g.39022679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022679T>G , CM000664.2:g.39022679T>G	GRCh38
NC_000002.11:g.39249820T>G , CM000664.1:g.39249820T>G	GRCh37
NC_000002.10:g.39103324T>G	NCBI36
NG_007530.1:g.102785A>C , LRG_754:g.102785A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1629A>C
ENST00000685279.1:c.516A>C	ENSP00000509424.1:p.Glu172Asp
ENST00000688043.1:n.1970A>C
ENST00000689668.1:n.1756A>C
ENST00000690876.1:c.1638A>C	ENSP00000508955.1:p.Glu546Asp
ENST00000691229.1:c.1638A>C	ENSP00000510437.1:p.Glu546Asp
ENST00000692089.1:c.1638A>C	ENSP00000508626.1:p.Glu546Asp
ENST00000692620.1:c.516A>C	ENSP00000509311.1:p.Glu172Asp
ENST00000402219.8:c.1749A>C MANE Select	ENSP00000384675.2:p.Glu583Asp
ENST00000395038.6:c.1749A>C	ENSP00000378479.2:p.Glu583Asp
ENST00000402219.6:c.1749A>C	ENSP00000384675.2:p.Glu583Asp
ENST00000426016.5:c.1749A>C	ENSP00000387784.1:p.Glu583Asp
NM_005633.3:c.1749A>C , LRG_754t1:c.1749A>C	NP_005624.2:p.Glu583Asp
XM_005264515.3:c.1749A>C	XP_005264572.1:p.Glu583Asp
XM_011533060.1:c.1842A>C	XP_011531362.1:p.Glu614Asp
XM_011533061.1:c.1842A>C	XP_011531363.1:p.Glu614Asp
XM_011533062.1:c.1728A>C	XP_011531364.1:p.Glu576Asp
XM_011533063.1:c.1725A>C	XP_011531365.1:p.Glu575Asp
XM_011533064.1:c.1578A>C	XP_011531366.1:p.Glu526Asp
XM_011533065.1:c.1842A>C	XP_011531367.1:p.Glu614Asp
XM_011533066.1:c.684A>C	XP_011531368.1:p.Glu228Asp
XM_005264515.4:c.1749A>C	XP_005264572.1:p.Glu583Asp
XM_011533062.2:c.1728A>C	XP_011531364.1:p.Glu576Asp
XM_011533064.2:c.1578A>C	XP_011531366.1:p.Glu526Asp
NM_001382394.1:c.1728A>C	NP_001369323.1:p.Glu576Asp
NM_001382395.1:c.1749A>C	NP_001369324.1:p.Glu583Asp
NM_005633.4:c.1749A>C MANE Select	NP_005624.2:p.Glu583Asp