Canonical Allele Identifier: CA389646126
Community Standard Title: NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159992C>T , CM000676.2:g.50159992C>T GRCh38
NC_000014.8:g.50626710C>T , CM000676.1:g.50626710C>T GRCh37
NC_000014.7:g.49696460C>T NCBI36
NG_051073.1:g.76702G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1291G>A MANE Select NP_008870.2:p.Glu431Lys
ENST00000216373.10:c.1291G>A MANE Select ENSP00000216373.5:p.Glu431Lys
NM_006939.2:c.1291G>A NP_008870.2:p.Glu431Lys
NM_006939.3:c.1291G>A NP_008870.2:p.Glu431Lys
ENST00000216373.9:c.1291G>A ENSP00000216373.5:p.Glu431Lys
ENST00000543680.5:c.1192G>A ENSP00000445328.1:p.Glu398Lys
ENST00000555794.2:c.405G>A
XM_005268021.1:c.1111G>A XP_005268078.1:p.Glu371Lys
XM_011537103.1:c.1252G>A XP_011535405.1:p.Glu418Lys
XM_011537104.1:c.1291G>A XP_011535406.1:p.Glu431Lys