Canonical Allele Identifier: CA389646816

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50174522G>A , CM000676.2:g.50174522G>A	GRCh38
NC_000014.8:g.50641240G>A , CM000676.1:g.50641240G>A	GRCh37
NC_000014.7:g.49710990G>A	NCBI36
NG_051073.1:g.62172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.1000C>T MANE Select	NP_008870.2:p.Arg334Cys
ENST00000216373.10:c.1000C>T MANE Select	ENSP00000216373.5:p.Arg334Cys
NM_006939.2:c.1000C>T	NP_008870.2:p.Arg334Cys
NM_006939.3:c.1000C>T	NP_008870.2:p.Arg334Cys
ENST00000216373.9:c.1000C>T	ENSP00000216373.5:p.Arg334Cys
ENST00000543680.5:c.969+6050C>T	ENSP00000445328.1:n.969+6050C>T
ENST00000555794.2:c.114C>T
XM_005268021.1:c.820C>T	XP_005268078.1:p.Arg274Cys
XM_011537103.1:c.961C>T	XP_011535405.1:p.Arg321Cys
XM_011537104.1:c.1000C>T	XP_011535406.1:p.Arg334Cys