Canonical Allele Identifier: CA425866713

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022682-A-G
• MyVariant Identifiers: chr2:g.39249823A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022682A>G , CM000664.2:g.39022682A>G	GRCh38
NC_000002.11:g.39249823A>G , CM000664.1:g.39249823A>G	GRCh37
NC_000002.10:g.39103327A>G	NCBI36
NG_007530.1:g.102782T>C , LRG_754:g.102782T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1626T>C
ENST00000685279.1:c.513T>C	ENSP00000509424.1:p.Ser171=
ENST00000688043.1:n.1967T>C
ENST00000689668.1:n.1753T>C
ENST00000690876.1:c.1635T>C	ENSP00000508955.1:p.Ser545=
ENST00000691229.1:c.1635T>C	ENSP00000510437.1:p.Ser545=
ENST00000692089.1:c.1635T>C	ENSP00000508626.1:p.Ser545=
ENST00000692620.1:c.513T>C	ENSP00000509311.1:p.Ser171=
ENST00000402219.8:c.1746T>C MANE Select	ENSP00000384675.2:p.Ser582=
ENST00000395038.6:c.1746T>C	ENSP00000378479.2:p.Ser582=
ENST00000402219.6:c.1746T>C	ENSP00000384675.2:p.Ser582=
ENST00000426016.5:c.1746T>C	ENSP00000387784.1:p.Ser582=
NM_005633.3:c.1746T>C , LRG_754t1:c.1746T>C	NP_005624.2:p.Ser582=
XM_005264515.3:c.1746T>C	XP_005264572.1:p.Ser582=
XM_011533060.1:c.1839T>C	XP_011531362.1:p.Ser613=
XM_011533061.1:c.1839T>C	XP_011531363.1:p.Ser613=
XM_011533062.1:c.1725T>C	XP_011531364.1:p.Ser575=
XM_011533063.1:c.1722T>C	XP_011531365.1:p.Ser574=
XM_011533064.1:c.1575T>C	XP_011531366.1:p.Ser525=
XM_011533065.1:c.1839T>C	XP_011531367.1:p.Ser613=
XM_011533066.1:c.681T>C	XP_011531368.1:p.Ser227=
XM_005264515.4:c.1746T>C	XP_005264572.1:p.Ser582=
XM_011533062.2:c.1725T>C	XP_011531364.1:p.Ser575=
XM_011533064.2:c.1575T>C	XP_011531366.1:p.Ser525=
NM_001382394.1:c.1725T>C	NP_001369323.1:p.Ser575=
NM_001382395.1:c.1746T>C	NP_001369324.1:p.Ser582=
NM_005633.4:c.1746T>C MANE Select	NP_005624.2:p.Ser582=