Canonical Allele Identifier: CA425866606

Gene: SOS1

Linked Data

• ClinVar Variation Id: 544010
• ClinVar RCV Id: RCV000654996
• dbSNP Id: rs1233000238
• gnomAD v2: 2-39249921-G-A
• gnomAD v3: 2-39022780-G-A
• gnomAD v4: 2-39022780-G-A
• MyVariant Identifiers: chr2:g.39249921G>A (hg19) ; chr2:g.39022780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022780G>A , CM000664.2:g.39022780G>A	GRCh38
NC_000002.11:g.39249921G>A , CM000664.1:g.39249921G>A	GRCh37
NC_000002.10:g.39103425G>A	NCBI36
NG_007530.1:g.102684C>T , LRG_754:g.102684C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1528C>T
ENST00000685279.1:c.415C>T	ENSP00000509424.1:p.Leu139=
ENST00000688043.1:n.1869C>T
ENST00000689668.1:n.1655C>T
ENST00000690876.1:c.1537C>T	ENSP00000508955.1:p.Leu513=
ENST00000691229.1:c.1537C>T	ENSP00000510437.1:p.Leu513=
ENST00000692089.1:c.1537C>T	ENSP00000508626.1:p.Leu513=
ENST00000692620.1:c.415C>T	ENSP00000509311.1:p.Leu139=
ENST00000402219.8:c.1648C>T MANE Select	ENSP00000384675.2:p.Leu550=
ENST00000395038.6:c.1648C>T	ENSP00000378479.2:p.Leu550=
ENST00000402219.6:c.1648C>T	ENSP00000384675.2:p.Leu550=
ENST00000426016.5:c.1648C>T	ENSP00000387784.1:p.Leu550=
NM_005633.3:c.1648C>T , LRG_754t1:c.1648C>T	NP_005624.2:p.Leu550=
XM_005264515.3:c.1648C>T	XP_005264572.1:p.Leu550=
XM_011533060.1:c.1741C>T	XP_011531362.1:p.Leu581=
XM_011533061.1:c.1741C>T	XP_011531363.1:p.Leu581=
XM_011533062.1:c.1627C>T	XP_011531364.1:p.Leu543=
XM_011533063.1:c.1624C>T	XP_011531365.1:p.Leu542=
XM_011533064.1:c.1477C>T	XP_011531366.1:p.Leu493=
XM_011533065.1:c.1741C>T	XP_011531367.1:p.Leu581=
XM_011533066.1:c.583C>T	XP_011531368.1:p.Leu195=
XM_005264515.4:c.1648C>T	XP_005264572.1:p.Leu550=
XM_011533062.2:c.1627C>T	XP_011531364.1:p.Leu543=
XM_011533064.2:c.1477C>T	XP_011531366.1:p.Leu493=
NM_001382394.1:c.1627C>T	NP_001369323.1:p.Leu543=
NM_001382395.1:c.1648C>T	NP_001369324.1:p.Leu550=
NM_005633.4:c.1648C>T MANE Select	NP_005624.2:p.Leu550=