Canonical Allele Identifier: CA346366304

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250189G>C (hg19) ; chr2:g.39023048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023048G>C , CM000664.2:g.39023048G>C	GRCh38
NC_000002.11:g.39250189G>C , CM000664.1:g.39250189G>C	GRCh37
NC_000002.10:g.39103693G>C	NCBI36
NG_007530.1:g.102416C>G , LRG_754:g.102416C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1260C>G
ENST00000685279.1:c.147C>G	ENSP00000509424.1:p.His49Gln
ENST00000688043.1:n.1601C>G
ENST00000689668.1:n.1387C>G
ENST00000690876.1:c.1269C>G	ENSP00000508955.1:p.His423Gln
ENST00000691229.1:c.1269C>G	ENSP00000510437.1:p.His423Gln
ENST00000692089.1:c.1269C>G	ENSP00000508626.1:p.His423Gln
ENST00000692620.1:c.147C>G	ENSP00000509311.1:p.His49Gln
ENST00000402219.8:c.1380C>G MANE Select	ENSP00000384675.2:p.His460Gln
ENST00000395038.6:c.1380C>G	ENSP00000378479.2:p.His460Gln
ENST00000402219.6:c.1380C>G	ENSP00000384675.2:p.His460Gln
ENST00000426016.5:c.1380C>G	ENSP00000387784.1:p.His460Gln
ENST00000472480.1:n.224C>G
NM_005633.3:c.1380C>G , LRG_754t1:c.1380C>G	NP_005624.2:p.His460Gln
XM_005264515.3:c.1380C>G	XP_005264572.1:p.His460Gln
XM_011533060.1:c.1473C>G	XP_011531362.1:p.His491Gln
XM_011533061.1:c.1473C>G	XP_011531363.1:p.His491Gln
XM_011533062.1:c.1359C>G	XP_011531364.1:p.His453Gln
XM_011533063.1:c.1356C>G	XP_011531365.1:p.His452Gln
XM_011533064.1:c.1209C>G	XP_011531366.1:p.His403Gln
XM_011533065.1:c.1473C>G	XP_011531367.1:p.His491Gln
XM_011533066.1:c.315C>G	XP_011531368.1:p.His105Gln
XM_005264515.4:c.1380C>G	XP_005264572.1:p.His460Gln
XM_011533062.2:c.1359C>G	XP_011531364.1:p.His453Gln
XM_011533064.2:c.1209C>G	XP_011531366.1:p.His403Gln
NM_001382394.1:c.1359C>G	NP_001369323.1:p.His453Gln
NM_001382395.1:c.1380C>G	NP_001369324.1:p.His460Gln
NM_005633.4:c.1380C>G MANE Select	NP_005624.2:p.His460Gln