Canonical Allele Identifier: CA346366658

Gene: SOS1

Linked Data

• gnomAD v4: 2-39023199-T-C
• MyVariant Identifiers: chr2:g.39250340T>C (hg19) ; chr2:g.39023199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023199T>C , CM000664.2:g.39023199T>C	GRCh38
NC_000002.11:g.39250340T>C , CM000664.1:g.39250340T>C	GRCh37
NC_000002.10:g.39103844T>C	NCBI36
NG_007530.1:g.102265A>G , LRG_754:g.102265A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1109A>G
ENST00000685279.1:c.-5A>G	ENSP00000509424.1:n.-5A>G
ENST00000688043.1:n.1450A>G
ENST00000689668.1:n.1236A>G
ENST00000690679.1:c.1416A>G
ENST00000690876.1:c.1118A>G	ENSP00000508955.1:p.Gln373Arg
ENST00000691229.1:c.1118A>G	ENSP00000510437.1:p.Gln373Arg
ENST00000692089.1:c.1118A>G	ENSP00000508626.1:p.Gln373Arg
ENST00000692620.1:c.-5A>G	ENSP00000509311.1:n.-5A>G
ENST00000402219.8:c.1229A>G MANE Select	ENSP00000384675.2:p.Gln410Arg
ENST00000395038.6:c.1229A>G	ENSP00000378479.2:p.Gln410Arg
ENST00000402219.6:c.1229A>G	ENSP00000384675.2:p.Gln410Arg
ENST00000426016.5:c.1229A>G	ENSP00000387784.1:p.Gln410Arg
ENST00000472480.1:n.73A>G
NM_005633.3:c.1229A>G , LRG_754t1:c.1229A>G	NP_005624.2:p.Gln410Arg
XM_005264515.3:c.1229A>G	XP_005264572.1:p.Gln410Arg
XM_011533060.1:c.1322A>G	XP_011531362.1:p.Gln441Arg
XM_011533061.1:c.1322A>G	XP_011531363.1:p.Gln441Arg
XM_011533062.1:c.1208A>G	XP_011531364.1:p.Gln403Arg
XM_011533063.1:c.1205A>G	XP_011531365.1:p.Gln402Arg
XM_011533064.1:c.1058A>G	XP_011531366.1:p.Gln353Arg
XM_011533065.1:c.1322A>G	XP_011531367.1:p.Gln441Arg
XM_011533066.1:c.164A>G	XP_011531368.1:p.Gln55Arg
XM_005264515.4:c.1229A>G	XP_005264572.1:p.Gln410Arg
XM_011533062.2:c.1208A>G	XP_011531364.1:p.Gln403Arg
XM_011533064.2:c.1058A>G	XP_011531366.1:p.Gln353Arg
NM_001382394.1:c.1208A>G	NP_001369323.1:p.Gln403Arg
NM_001382395.1:c.1229A>G	NP_001369324.1:p.Gln410Arg
NM_005633.4:c.1229A>G MANE Select	NP_005624.2:p.Gln410Arg