Canonical Allele Identifier: CA346365944

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250033A>C (hg19) ; chr2:g.39022892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022892A>C , CM000664.2:g.39022892A>C	GRCh38
NC_000002.11:g.39250033A>C , CM000664.1:g.39250033A>C	GRCh37
NC_000002.10:g.39103537A>C	NCBI36
NG_007530.1:g.102572T>G , LRG_754:g.102572T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1416T>G
ENST00000685279.1:c.303T>G	ENSP00000509424.1:p.His101Gln
ENST00000688043.1:n.1757T>G
ENST00000689668.1:n.1543T>G
ENST00000690876.1:c.1425T>G	ENSP00000508955.1:p.His475Gln
ENST00000691229.1:c.1425T>G	ENSP00000510437.1:p.His475Gln
ENST00000692089.1:c.1425T>G	ENSP00000508626.1:p.His475Gln
ENST00000692620.1:c.303T>G	ENSP00000509311.1:p.His101Gln
ENST00000402219.8:c.1536T>G MANE Select	ENSP00000384675.2:p.His512Gln
ENST00000395038.6:c.1536T>G	ENSP00000378479.2:p.His512Gln
ENST00000402219.6:c.1536T>G	ENSP00000384675.2:p.His512Gln
ENST00000426016.5:c.1536T>G	ENSP00000387784.1:p.His512Gln
ENST00000472480.1:n.380T>G
NM_005633.3:c.1536T>G , LRG_754t1:c.1536T>G	NP_005624.2:p.His512Gln
XM_005264515.3:c.1536T>G	XP_005264572.1:p.His512Gln
XM_011533060.1:c.1629T>G	XP_011531362.1:p.His543Gln
XM_011533061.1:c.1629T>G	XP_011531363.1:p.His543Gln
XM_011533062.1:c.1515T>G	XP_011531364.1:p.His505Gln
XM_011533063.1:c.1512T>G	XP_011531365.1:p.His504Gln
XM_011533064.1:c.1365T>G	XP_011531366.1:p.His455Gln
XM_011533065.1:c.1629T>G	XP_011531367.1:p.His543Gln
XM_011533066.1:c.471T>G	XP_011531368.1:p.His157Gln
XM_005264515.4:c.1536T>G	XP_005264572.1:p.His512Gln
XM_011533062.2:c.1515T>G	XP_011531364.1:p.His505Gln
XM_011533064.2:c.1365T>G	XP_011531366.1:p.His455Gln
NM_001382394.1:c.1515T>G	NP_001369323.1:p.His505Gln
NM_001382395.1:c.1536T>G	NP_001369324.1:p.His512Gln
NM_005633.4:c.1536T>G MANE Select	NP_005624.2:p.His512Gln