Canonical Allele Identifier: CA45674400

Gene: SOS1

Linked Data

• dbSNP Id: rs973357107
• gnomAD v2: 2-39249815-T-C
• gnomAD v3: 2-39022674-T-C
• gnomAD v4: 2-39022674-T-C
• MyVariant Identifiers: chr2:g.39249815T>C (hg19) ; chr2:g.39022674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022674T>C , CM000664.2:g.39022674T>C	GRCh38
NC_000002.11:g.39249815T>C , CM000664.1:g.39249815T>C	GRCh37
NC_000002.10:g.39103319T>C	NCBI36
NG_007530.1:g.102790A>G , LRG_754:g.102790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1634A>G
ENST00000685279.1:c.521A>G	ENSP00000509424.1:p.Asn174Ser
ENST00000688043.1:n.1975A>G
ENST00000689668.1:n.1761A>G
ENST00000690876.1:c.1643A>G	ENSP00000508955.1:p.Asn548Ser
ENST00000691229.1:c.1643A>G	ENSP00000510437.1:p.Asn548Ser
ENST00000692089.1:c.1643A>G	ENSP00000508626.1:p.Asn548Ser
ENST00000692620.1:c.521A>G	ENSP00000509311.1:p.Asn174Ser
ENST00000402219.8:c.1754A>G MANE Select	ENSP00000384675.2:p.Asn585Ser
ENST00000395038.6:c.1754A>G	ENSP00000378479.2:p.Asn585Ser
ENST00000402219.6:c.1754A>G	ENSP00000384675.2:p.Asn585Ser
ENST00000426016.5:c.1754A>G	ENSP00000387784.1:p.Asn585Ser
NM_005633.3:c.1754A>G , LRG_754t1:c.1754A>G	NP_005624.2:p.Asn585Ser
XM_005264515.3:c.1754A>G	XP_005264572.1:p.Asn585Ser
XM_011533060.1:c.1847A>G	XP_011531362.1:p.Asn616Ser
XM_011533061.1:c.1847A>G	XP_011531363.1:p.Asn616Ser
XM_011533062.1:c.1733A>G	XP_011531364.1:p.Asn578Ser
XM_011533063.1:c.1730A>G	XP_011531365.1:p.Asn577Ser
XM_011533064.1:c.1583A>G	XP_011531366.1:p.Asn528Ser
XM_011533065.1:c.1847A>G	XP_011531367.1:p.Asn616Ser
XM_011533066.1:c.689A>G	XP_011531368.1:p.Asn230Ser
XM_005264515.4:c.1754A>G	XP_005264572.1:p.Asn585Ser
XM_011533062.2:c.1733A>G	XP_011531364.1:p.Asn578Ser
XM_011533064.2:c.1583A>G	XP_011531366.1:p.Asn528Ser
NM_001382394.1:c.1733A>G	NP_001369323.1:p.Asn578Ser
NM_001382395.1:c.1754A>G	NP_001369324.1:p.Asn585Ser
NM_005633.4:c.1754A>G MANE Select	NP_005624.2:p.Asn585Ser