Canonical Allele Identifier: CA16021006
Community Standard Title: NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50182530G>T , CM000676.2:g.50182530G>T GRCh38
NC_000014.8:g.50649248G>T , CM000676.1:g.50649248G>T GRCh37
NC_000014.7:g.49718998G>T NCBI36
NG_051073.1:g.54164C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.791C>A MANE Select NP_008870.2:p.Thr264Lys
ENST00000216373.10:c.791C>A MANE Select ENSP00000216373.5:p.Thr264Lys
NM_006939.2:c.791C>A NP_008870.2:p.Thr264Lys
NM_006939.3:c.791C>A NP_008870.2:p.Thr264Lys
ENST00000216373.9:c.791C>A ENSP00000216373.5:p.Thr264Lys
ENST00000543680.5:c.791C>A ENSP00000445328.1:p.Thr264Lys
ENST00000556469.5:n.558C>A
XM_005268021.1:c.611C>A XP_005268078.1:p.Thr204Lys
XM_011537103.1:c.752C>A XP_011535405.1:p.Thr251Lys
XM_011537104.1:c.791C>A XP_011535406.1:p.Thr264Lys
XR_943842.1:n.954-1257G>T
XR_943843.1:n.954-1257G>T