Canonical Allele Identifier: CA1624612

Gene: SOS1

Linked Data

• ClinVar Variation Id: 2817611
• ClinVar RCV Id: RCV003655735
• dbSNP Id: rs769027463
• ExAC: 2:39250307 T / A
• gnomAD v2: 2-39250307-T-A
• MyVariant Identifiers: chr2:g.39250307T>A (hg19) ; chr2:g.39023166T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023166T>A , CM000664.2:g.39023166T>A	GRCh38
NC_000002.11:g.39250307T>A , CM000664.1:g.39250307T>A	GRCh37
NC_000002.10:g.39103811T>A	NCBI36
NG_007530.1:g.102298A>T , LRG_754:g.102298A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1142A>T
ENST00000685279.1:c.29A>T	ENSP00000509424.1:p.Lys10Met
ENST00000688043.1:n.1483A>T
ENST00000689668.1:n.1269A>T
ENST00000690679.1:c.1449A>T
ENST00000690876.1:c.1151A>T	ENSP00000508955.1:p.Lys384Met
ENST00000691229.1:c.1151A>T	ENSP00000510437.1:p.Lys384Met
ENST00000692089.1:c.1151A>T	ENSP00000508626.1:p.Lys384Met
ENST00000692620.1:c.29A>T	ENSP00000509311.1:p.Lys10Met
ENST00000402219.8:c.1262A>T MANE Select	ENSP00000384675.2:p.Lys421Met
ENST00000395038.6:c.1262A>T	ENSP00000378479.2:p.Lys421Met
ENST00000402219.6:c.1262A>T	ENSP00000384675.2:p.Lys421Met
ENST00000426016.5:c.1262A>T	ENSP00000387784.1:p.Lys421Met
ENST00000472480.1:n.106A>T
NM_005633.3:c.1262A>T , LRG_754t1:c.1262A>T	NP_005624.2:p.Lys421Met
XM_005264515.3:c.1262A>T	XP_005264572.1:p.Lys421Met
XM_011533060.1:c.1355A>T	XP_011531362.1:p.Lys452Met
XM_011533061.1:c.1355A>T	XP_011531363.1:p.Lys452Met
XM_011533062.1:c.1241A>T	XP_011531364.1:p.Lys414Met
XM_011533063.1:c.1238A>T	XP_011531365.1:p.Lys413Met
XM_011533064.1:c.1091A>T	XP_011531366.1:p.Lys364Met
XM_011533065.1:c.1355A>T	XP_011531367.1:p.Lys452Met
XM_011533066.1:c.197A>T	XP_011531368.1:p.Lys66Met
XM_005264515.4:c.1262A>T	XP_005264572.1:p.Lys421Met
XM_011533062.2:c.1241A>T	XP_011531364.1:p.Lys414Met
XM_011533064.2:c.1091A>T	XP_011531366.1:p.Lys364Met
NM_001382394.1:c.1241A>T	NP_001369323.1:p.Lys414Met
NM_001382395.1:c.1262A>T	NP_001369324.1:p.Lys421Met
NM_005633.4:c.1262A>T MANE Select	NP_005624.2:p.Lys421Met