Canonical Allele Identifier: CA486170842

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2448249
• ClinVar RCV Id: RCV003168235
• gnomAD v4: 14-50182514-A-G
• MyVariant Identifiers: chr14:g.50649232A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182514A>G , CM000676.2:g.50182514A>G	GRCh38
NC_000014.8:g.50649232A>G , CM000676.1:g.50649232A>G	GRCh37
NC_000014.7:g.49718982A>G	NCBI36
NG_051073.1:g.54180T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.807T>C MANE Select	ENSP00000216373.5:p.Asp269=
ENST00000216373.9:c.807T>C	ENSP00000216373.5:p.Asp269=
ENST00000543680.5:c.807T>C	ENSP00000445328.1:p.Asp269=
ENST00000556469.5:n.574T>C
NM_006939.2:c.807T>C	NP_008870.2:p.Asp269=
XM_005268021.1:c.627T>C	XP_005268078.1:p.Asp209=
XM_011537103.1:c.768T>C	XP_011535405.1:p.Asp256=
XM_011537104.1:c.807T>C	XP_011535406.1:p.Asp269=
XR_943842.1:n.954-1273A>G
XR_943843.1:n.954-1273A>G
NM_006939.3:c.807T>C	NP_008870.2:p.Asp269=
NM_006939.4:c.807T>C MANE Select	NP_008870.2:p.Asp269=