Canonical Allele Identifier: CA346373165

Gene: SOS1

Linked Data

• gnomAD v4: 2-39054732-T-G
• MyVariant Identifiers: chr2:g.39281873T>G (hg19) ; chr2:g.39054732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054732T>G , CM000664.2:g.39054732T>G	GRCh38
NC_000002.11:g.39281873T>G , CM000664.1:g.39281873T>G	GRCh37
NC_000002.10:g.39135377T>G	NCBI36
NG_007530.1:g.70732A>C , LRG_754:g.70732A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.629A>C
ENST00000685782.1:n.1440A>C
ENST00000688189.1:n.367A>C
ENST00000689668.1:n.609A>C
ENST00000690679.1:c.702A>C
ENST00000690876.1:c.602A>C	ENSP00000508955.1:p.Tyr201Ser
ENST00000691229.1:c.602A>C	ENSP00000510437.1:p.Tyr201Ser
ENST00000692089.1:c.602A>C	ENSP00000508626.1:p.Tyr201Ser
ENST00000402219.8:c.602A>C MANE Select	ENSP00000384675.2:p.Tyr201Ser
ENST00000395038.6:c.602A>C	ENSP00000378479.2:p.Tyr201Ser
ENST00000402219.6:c.602A>C	ENSP00000384675.2:p.Tyr201Ser
ENST00000426016.5:c.602A>C	ENSP00000387784.1:p.Tyr201Ser
NM_005633.3:c.602A>C , LRG_754t1:c.602A>C	NP_005624.2:p.Tyr201Ser
XM_005264515.3:c.602A>C	XP_005264572.1:p.Tyr201Ser
XM_011533060.1:c.695A>C	XP_011531362.1:p.Tyr232Ser
XM_011533061.1:c.695A>C	XP_011531363.1:p.Tyr232Ser
XM_011533062.1:c.581A>C	XP_011531364.1:p.Tyr194Ser
XM_011533063.1:c.578A>C	XP_011531365.1:p.Tyr193Ser
XM_011533064.1:c.431A>C	XP_011531366.1:p.Tyr144Ser
XM_011533065.1:c.695A>C	XP_011531367.1:p.Tyr232Ser
XM_005264515.4:c.602A>C	XP_005264572.1:p.Tyr201Ser
XM_011533062.2:c.581A>C	XP_011531364.1:p.Tyr194Ser
XM_011533064.2:c.431A>C	XP_011531366.1:p.Tyr144Ser
NM_001382394.1:c.581A>C	NP_001369323.1:p.Tyr194Ser
NM_001382395.1:c.602A>C	NP_001369324.1:p.Tyr201Ser
NM_005633.4:c.602A>C MANE Select	NP_005624.2:p.Tyr201Ser