Canonical Allele Identifier: CA346373123

Gene: SOS1

Linked Data

• gnomAD v4: 2-39054714-G-T
• MyVariant Identifiers: chr2:g.39281855G>T (hg19) ; chr2:g.39054714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39054714G>T , CM000664.2:g.39054714G>T	GRCh38
NC_000002.11:g.39281855G>T , CM000664.1:g.39281855G>T	GRCh37
NC_000002.10:g.39135359G>T	NCBI36
NG_007530.1:g.70750C>A , LRG_754:g.70750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461545.2:n.647C>A
ENST00000685782.1:n.1458C>A
ENST00000688189.1:n.385C>A
ENST00000689668.1:n.627C>A
ENST00000690679.1:c.720C>A
ENST00000690876.1:c.620C>A	ENSP00000508955.1:p.Ala207Glu
ENST00000691229.1:c.620C>A	ENSP00000510437.1:p.Ala207Glu
ENST00000692089.1:c.620C>A	ENSP00000508626.1:p.Ala207Glu
ENST00000402219.8:c.620C>A MANE Select	ENSP00000384675.2:p.Ala207Glu
ENST00000395038.6:c.620C>A	ENSP00000378479.2:p.Ala207Glu
ENST00000402219.6:c.620C>A	ENSP00000384675.2:p.Ala207Glu
ENST00000426016.5:c.620C>A	ENSP00000387784.1:p.Ala207Glu
NM_005633.3:c.620C>A , LRG_754t1:c.620C>A	NP_005624.2:p.Ala207Glu
XM_005264515.3:c.620C>A	XP_005264572.1:p.Ala207Glu
XM_011533060.1:c.713C>A	XP_011531362.1:p.Ala238Glu
XM_011533061.1:c.713C>A	XP_011531363.1:p.Ala238Glu
XM_011533062.1:c.599C>A	XP_011531364.1:p.Ala200Glu
XM_011533063.1:c.596C>A	XP_011531365.1:p.Ala199Glu
XM_011533064.1:c.449C>A	XP_011531366.1:p.Ala150Glu
XM_011533065.1:c.713C>A	XP_011531367.1:p.Ala238Glu
XM_005264515.4:c.620C>A	XP_005264572.1:p.Ala207Glu
XM_011533062.2:c.599C>A	XP_011531364.1:p.Ala200Glu
XM_011533064.2:c.449C>A	XP_011531366.1:p.Ala150Glu
NM_001382394.1:c.599C>A	NP_001369323.1:p.Ala200Glu
NM_001382395.1:c.620C>A	NP_001369324.1:p.Ala207Glu
NM_005633.4:c.620C>A MANE Select	NP_005624.2:p.Ala207Glu