Canonical Allele Identifier: CA389644251

Gene: SOS2

Linked Data

• dbSNP Id: rs1371664428
• MyVariant Identifiers: chr14:g.50619861T>G (hg19) ; chr14:g.50153143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153143T>G , CM000676.2:g.50153143T>G	GRCh38
NC_000014.8:g.50619861T>G , CM000676.1:g.50619861T>G	GRCh37
NC_000014.7:g.49689611T>G	NCBI36
NG_051073.1:g.83551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2088A>C MANE Select	ENSP00000216373.5:p.Glu696Asp
ENST00000216373.9:c.2088A>C	ENSP00000216373.5:p.Glu696Asp
ENST00000543680.5:c.1989A>C	ENSP00000445328.1:p.Glu663Asp
NM_006939.2:c.2088A>C	NP_008870.2:p.Glu696Asp
XM_005268021.1:c.1908A>C	XP_005268078.1:p.Glu636Asp
XM_011537103.1:c.2049A>C	XP_011535405.1:p.Glu683Asp
XM_011537104.1:c.2088A>C	XP_011535406.1:p.Glu696Asp
NM_006939.3:c.2088A>C	NP_008870.2:p.Glu696Asp
NM_006939.4:c.2088A>C MANE Select	NP_008870.2:p.Glu696Asp