Canonical Allele Identifier: CA389647694

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50649229T>A (hg19) ; chr14:g.50182511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182511T>A , CM000676.2:g.50182511T>A	GRCh38
NC_000014.8:g.50649229T>A , CM000676.1:g.50649229T>A	GRCh37
NC_000014.7:g.49718979T>A	NCBI36
NG_051073.1:g.54183A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.810A>T MANE Select	ENSP00000216373.5:p.Glu270Asp
ENST00000216373.9:c.810A>T	ENSP00000216373.5:p.Glu270Asp
ENST00000543680.5:c.810A>T	ENSP00000445328.1:p.Glu270Asp
ENST00000556469.5:n.577A>T
NM_006939.2:c.810A>T	NP_008870.2:p.Glu270Asp
XM_005268021.1:c.630A>T	XP_005268078.1:p.Glu210Asp
XM_011537103.1:c.771A>T	XP_011535405.1:p.Glu257Asp
XM_011537104.1:c.810A>T	XP_011535406.1:p.Glu270Asp
XR_943842.1:n.954-1276T>A
XR_943843.1:n.954-1276T>A
NM_006939.3:c.810A>T	NP_008870.2:p.Glu270Asp
NM_006939.4:c.810A>T MANE Select	NP_008870.2:p.Glu270Asp