Canonical Allele Identifier: CA273696

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40696
• ClinVar RCV Id: RCV000156979 ; RCV000159124 ; RCV000817385 ; RCV002496502 ; RCV002467518
• dbSNP Id: rs727505381
• gnomAD v2: 2-39240664-A-G
• gnomAD v4: 2-39013523-A-G
• MyVariant Identifiers: chr2:g.39240664A>G (hg19) ; chr2:g.39013523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39013523A>G , CM000664.2:g.39013523A>G	GRCh38
NC_000002.11:g.39240664A>G , CM000664.1:g.39240664A>G	GRCh37
NC_000002.10:g.39094168A>G	NCBI36
NG_007530.1:g.111941T>C , LRG_754:g.111941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685279.1:c.871T>C	ENSP00000509424.1:p.Tyr291His
ENST00000688043.1:n.2325T>C
ENST00000689668.1:n.2111T>C
ENST00000690514.1:n.193T>C
ENST00000690876.1:c.1993T>C	ENSP00000508955.1:p.Tyr665His
ENST00000691229.1:c.1993T>C	ENSP00000510437.1:p.Tyr665His
ENST00000692089.1:c.1993T>C	ENSP00000508626.1:p.Tyr665His
ENST00000692620.1:c.871T>C	ENSP00000509311.1:p.Tyr291His
ENST00000402219.8:c.2104T>C MANE Select	ENSP00000384675.2:p.Tyr702His
ENST00000395038.6:c.2104T>C	ENSP00000378479.2:p.Tyr702His
ENST00000402219.6:c.2104T>C	ENSP00000384675.2:p.Tyr702His
ENST00000426016.5:c.2104T>C	ENSP00000387784.1:p.Tyr702His
NM_005633.3:c.2104T>C , LRG_754t1:c.2104T>C	NP_005624.2:p.Tyr702His
XM_005264515.3:c.2104T>C	XP_005264572.1:p.Tyr702His
XM_011533060.1:c.2197T>C	XP_011531362.1:p.Tyr733His
XM_011533061.1:c.2197T>C	XP_011531363.1:p.Tyr733His
XM_011533062.1:c.2083T>C	XP_011531364.1:p.Tyr695His
XM_011533063.1:c.2080T>C	XP_011531365.1:p.Tyr694His
XM_011533064.1:c.1933T>C	XP_011531366.1:p.Tyr645His
XM_011533065.1:c.2197T>C	XP_011531367.1:p.Tyr733His
XM_011533066.1:c.1039T>C	XP_011531368.1:p.Tyr347His
XM_005264515.4:c.2104T>C	XP_005264572.1:p.Tyr702His
XM_011533062.2:c.2083T>C	XP_011531364.1:p.Tyr695His
XM_011533064.2:c.1933T>C	XP_011531366.1:p.Tyr645His
NM_001382394.1:c.2083T>C	NP_001369323.1:p.Tyr695His
NM_001382395.1:c.2104T>C	NP_001369324.1:p.Tyr702His
NM_005633.4:c.2104T>C MANE Select	NP_005624.2:p.Tyr702His