Canonical Allele Identifier: CA346366043

Gene: SOS1

Linked Data

• ClinVar Variation Id: 943944
• ClinVar RCV Id: RCV001214235
• dbSNP Id: rs1315811250
• gnomAD v4: 2-39022933-C-A
• MyVariant Identifiers: chr2:g.39250074C>A (hg19) ; chr2:g.39022933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022933C>A , CM000664.2:g.39022933C>A	GRCh38
NC_000002.11:g.39250074C>A , CM000664.1:g.39250074C>A	GRCh37
NC_000002.10:g.39103578C>A	NCBI36
NG_007530.1:g.102531G>T , LRG_754:g.102531G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000472480.2:n.1375G>T
ENST00000685279.1:c.262G>T	ENSP00000509424.1:p.Val88Leu
ENST00000688043.1:n.1716G>T
ENST00000689668.1:n.1502G>T
ENST00000690876.1:c.1384G>T	ENSP00000508955.1:p.Val462Leu
ENST00000691229.1:c.1384G>T	ENSP00000510437.1:p.Val462Leu
ENST00000692089.1:c.1384G>T	ENSP00000508626.1:p.Val462Leu
ENST00000692620.1:c.262G>T	ENSP00000509311.1:p.Val88Leu
ENST00000402219.8:c.1495G>T MANE Select	ENSP00000384675.2:p.Val499Leu
ENST00000395038.6:c.1495G>T	ENSP00000378479.2:p.Val499Leu
ENST00000402219.6:c.1495G>T	ENSP00000384675.2:p.Val499Leu
ENST00000426016.5:c.1495G>T	ENSP00000387784.1:p.Val499Leu
ENST00000472480.1:n.339G>T
NM_005633.3:c.1495G>T , LRG_754t1:c.1495G>T	NP_005624.2:p.Val499Leu
XM_005264515.3:c.1495G>T	XP_005264572.1:p.Val499Leu
XM_011533060.1:c.1588G>T	XP_011531362.1:p.Val530Leu
XM_011533061.1:c.1588G>T	XP_011531363.1:p.Val530Leu
XM_011533062.1:c.1474G>T	XP_011531364.1:p.Val492Leu
XM_011533063.1:c.1471G>T	XP_011531365.1:p.Val491Leu
XM_011533064.1:c.1324G>T	XP_011531366.1:p.Val442Leu
XM_011533065.1:c.1588G>T	XP_011531367.1:p.Val530Leu
XM_011533066.1:c.430G>T	XP_011531368.1:p.Val144Leu
XM_005264515.4:c.1495G>T	XP_005264572.1:p.Val499Leu
XM_011533062.2:c.1474G>T	XP_011531364.1:p.Val492Leu
XM_011533064.2:c.1324G>T	XP_011531366.1:p.Val442Leu
NM_001382394.1:c.1474G>T	NP_001369323.1:p.Val492Leu
NM_001382395.1:c.1495G>T	NP_001369324.1:p.Val499Leu
NM_005633.4:c.1495G>T MANE Select	NP_005624.2:p.Val499Leu