Canonical Allele Identifier: CA346366007

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022918-T-C
• MyVariant Identifiers: chr2:g.39250059T>C (hg19) ; chr2:g.39022918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022918T>C , CM000664.2:g.39022918T>C	GRCh38
NC_000002.11:g.39250059T>C , CM000664.1:g.39250059T>C	GRCh37
NC_000002.10:g.39103563T>C	NCBI36
NG_007530.1:g.102546A>G , LRG_754:g.102546A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1390A>G
ENST00000685279.1:c.277A>G	ENSP00000509424.1:p.Lys93Glu
ENST00000688043.1:n.1731A>G
ENST00000689668.1:n.1517A>G
ENST00000690876.1:c.1399A>G	ENSP00000508955.1:p.Lys467Glu
ENST00000691229.1:c.1399A>G	ENSP00000510437.1:p.Lys467Glu
ENST00000692089.1:c.1399A>G	ENSP00000508626.1:p.Lys467Glu
ENST00000692620.1:c.277A>G	ENSP00000509311.1:p.Lys93Glu
ENST00000402219.8:c.1510A>G MANE Select	ENSP00000384675.2:p.Lys504Glu
ENST00000395038.6:c.1510A>G	ENSP00000378479.2:p.Lys504Glu
ENST00000402219.6:c.1510A>G	ENSP00000384675.2:p.Lys504Glu
ENST00000426016.5:c.1510A>G	ENSP00000387784.1:p.Lys504Glu
ENST00000472480.1:n.354A>G
NM_005633.3:c.1510A>G , LRG_754t1:c.1510A>G	NP_005624.2:p.Lys504Glu
XM_005264515.3:c.1510A>G	XP_005264572.1:p.Lys504Glu
XM_011533060.1:c.1603A>G	XP_011531362.1:p.Lys535Glu
XM_011533061.1:c.1603A>G	XP_011531363.1:p.Lys535Glu
XM_011533062.1:c.1489A>G	XP_011531364.1:p.Lys497Glu
XM_011533063.1:c.1486A>G	XP_011531365.1:p.Lys496Glu
XM_011533064.1:c.1339A>G	XP_011531366.1:p.Lys447Glu
XM_011533065.1:c.1603A>G	XP_011531367.1:p.Lys535Glu
XM_011533066.1:c.445A>G	XP_011531368.1:p.Lys149Glu
XM_005264515.4:c.1510A>G	XP_005264572.1:p.Lys504Glu
XM_011533062.2:c.1489A>G	XP_011531364.1:p.Lys497Glu
XM_011533064.2:c.1339A>G	XP_011531366.1:p.Lys447Glu
NM_001382394.1:c.1489A>G	NP_001369323.1:p.Lys497Glu
NM_001382395.1:c.1510A>G	NP_001369324.1:p.Lys504Glu
NM_005633.4:c.1510A>G MANE Select	NP_005624.2:p.Lys504Glu