Canonical Allele Identifier: CA346366330

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250200G>A (hg19) ; chr2:g.39023059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023059G>A , CM000664.2:g.39023059G>A	GRCh38
NC_000002.11:g.39250200G>A , CM000664.1:g.39250200G>A	GRCh37
NC_000002.10:g.39103704G>A	NCBI36
NG_007530.1:g.102405C>T , LRG_754:g.102405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1249C>T
ENST00000685279.1:c.136C>T	ENSP00000509424.1:p.His46Tyr
ENST00000688043.1:n.1590C>T
ENST00000689668.1:n.1376C>T
ENST00000690876.1:c.1258C>T	ENSP00000508955.1:p.His420Tyr
ENST00000691229.1:c.1258C>T	ENSP00000510437.1:p.His420Tyr
ENST00000692089.1:c.1258C>T	ENSP00000508626.1:p.His420Tyr
ENST00000692620.1:c.136C>T	ENSP00000509311.1:p.His46Tyr
ENST00000402219.8:c.1369C>T MANE Select	ENSP00000384675.2:p.His457Tyr
ENST00000395038.6:c.1369C>T	ENSP00000378479.2:p.His457Tyr
ENST00000402219.6:c.1369C>T	ENSP00000384675.2:p.His457Tyr
ENST00000426016.5:c.1369C>T	ENSP00000387784.1:p.His457Tyr
ENST00000472480.1:n.213C>T
NM_005633.3:c.1369C>T , LRG_754t1:c.1369C>T	NP_005624.2:p.His457Tyr
XM_005264515.3:c.1369C>T	XP_005264572.1:p.His457Tyr
XM_011533060.1:c.1462C>T	XP_011531362.1:p.His488Tyr
XM_011533061.1:c.1462C>T	XP_011531363.1:p.His488Tyr
XM_011533062.1:c.1348C>T	XP_011531364.1:p.His450Tyr
XM_011533063.1:c.1345C>T	XP_011531365.1:p.His449Tyr
XM_011533064.1:c.1198C>T	XP_011531366.1:p.His400Tyr
XM_011533065.1:c.1462C>T	XP_011531367.1:p.His488Tyr
XM_011533066.1:c.304C>T	XP_011531368.1:p.His102Tyr
XM_005264515.4:c.1369C>T	XP_005264572.1:p.His457Tyr
XM_011533062.2:c.1348C>T	XP_011531364.1:p.His450Tyr
XM_011533064.2:c.1198C>T	XP_011531366.1:p.His400Tyr
NM_001382394.1:c.1348C>T	NP_001369323.1:p.His450Tyr
NM_001382395.1:c.1369C>T	NP_001369324.1:p.His457Tyr
NM_005633.4:c.1369C>T MANE Select	NP_005624.2:p.His457Tyr