Canonical Allele Identifier: CA346366540

Gene: SOS1

Linked Data

• gnomAD v4: 2-39023150-C-G
• MyVariant Identifiers: chr2:g.39250291C>G (hg19) ; chr2:g.39023150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023150C>G , CM000664.2:g.39023150C>G	GRCh38
NC_000002.11:g.39250291C>G , CM000664.1:g.39250291C>G	GRCh37
NC_000002.10:g.39103795C>G	NCBI36
NG_007530.1:g.102314G>C , LRG_754:g.102314G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1158G>C
ENST00000685279.1:c.45G>C	ENSP00000509424.1:p.Gln15His
ENST00000688043.1:n.1499G>C
ENST00000689668.1:n.1285G>C
ENST00000690679.1:c.1465G>C
ENST00000690876.1:c.1167G>C	ENSP00000508955.1:p.Gln389His
ENST00000691229.1:c.1167G>C	ENSP00000510437.1:p.Gln389His
ENST00000692089.1:c.1167G>C	ENSP00000508626.1:p.Gln389His
ENST00000692620.1:c.45G>C	ENSP00000509311.1:p.Gln15His
ENST00000402219.8:c.1278G>C MANE Select	ENSP00000384675.2:p.Gln426His
ENST00000395038.6:c.1278G>C	ENSP00000378479.2:p.Gln426His
ENST00000402219.6:c.1278G>C	ENSP00000384675.2:p.Gln426His
ENST00000426016.5:c.1278G>C	ENSP00000387784.1:p.Gln426His
ENST00000472480.1:n.122G>C
NM_005633.3:c.1278G>C , LRG_754t1:c.1278G>C	NP_005624.2:p.Gln426His
XM_005264515.3:c.1278G>C	XP_005264572.1:p.Gln426His
XM_011533060.1:c.1371G>C	XP_011531362.1:p.Gln457His
XM_011533061.1:c.1371G>C	XP_011531363.1:p.Gln457His
XM_011533062.1:c.1257G>C	XP_011531364.1:p.Gln419His
XM_011533063.1:c.1254G>C	XP_011531365.1:p.Gln418His
XM_011533064.1:c.1107G>C	XP_011531366.1:p.Gln369His
XM_011533065.1:c.1371G>C	XP_011531367.1:p.Gln457His
XM_011533066.1:c.213G>C	XP_011531368.1:p.Gln71His
XM_005264515.4:c.1278G>C	XP_005264572.1:p.Gln426His
XM_011533062.2:c.1257G>C	XP_011531364.1:p.Gln419His
XM_011533064.2:c.1107G>C	XP_011531366.1:p.Gln369His
NM_001382394.1:c.1257G>C	NP_001369323.1:p.Gln419His
NM_001382395.1:c.1278G>C	NP_001369324.1:p.Gln426His
NM_005633.4:c.1278G>C MANE Select	NP_005624.2:p.Gln426His