Canonical Allele Identifier: CA389644149

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50619819T>A (hg19) ; chr14:g.50153101T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153101T>A , CM000676.2:g.50153101T>A	GRCh38
NC_000014.8:g.50619819T>A , CM000676.1:g.50619819T>A	GRCh37
NC_000014.7:g.49689569T>A	NCBI36
NG_051073.1:g.83593A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2130A>T MANE Select	ENSP00000216373.5:p.Glu710Asp
ENST00000216373.9:c.2130A>T	ENSP00000216373.5:p.Glu710Asp
ENST00000543680.5:c.2031A>T	ENSP00000445328.1:p.Glu677Asp
NM_006939.2:c.2130A>T	NP_008870.2:p.Glu710Asp
XM_005268021.1:c.1950A>T	XP_005268078.1:p.Glu650Asp
XM_011537103.1:c.2091A>T	XP_011535405.1:p.Glu697Asp
XM_011537104.1:c.2130A>T	XP_011535406.1:p.Glu710Asp
NM_006939.3:c.2130A>T	NP_008870.2:p.Glu710Asp
NM_006939.4:c.2130A>T MANE Select	NP_008870.2:p.Glu710Asp