Canonical Allele Identifier: CA16021011
Community Standard Title: NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50182521A>C , CM000676.2:g.50182521A>C GRCh38
NC_000014.8:g.50649239A>C , CM000676.1:g.50649239A>C GRCh37
NC_000014.7:g.49718989A>C NCBI36
NG_051073.1:g.54173T>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.800T>G MANE Select NP_008870.2:p.Met267Arg
ENST00000216373.10:c.800T>G MANE Select ENSP00000216373.5:p.Met267Arg
NM_006939.2:c.800T>G NP_008870.2:p.Met267Arg
NM_006939.3:c.800T>G NP_008870.2:p.Met267Arg
ENST00000216373.9:c.800T>G ENSP00000216373.5:p.Met267Arg
ENST00000543680.5:c.800T>G ENSP00000445328.1:p.Met267Arg
ENST00000556469.5:n.567T>G
XM_005268021.1:c.620T>G XP_005268078.1:p.Met207Arg
XM_011537103.1:c.761T>G XP_011535405.1:p.Met254Arg
XM_011537104.1:c.800T>G XP_011535406.1:p.Met267Arg
XR_943842.1:n.954-1266A>C
XR_943843.1:n.954-1266A>C