Canonical Allele Identifier: CA7177455
Community Standard Title: NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50182600C>T , CM000676.2:g.50182600C>T GRCh38
NC_000014.8:g.50649318C>T , CM000676.1:g.50649318C>T GRCh37
NC_000014.7:g.49719068C>T NCBI36
NG_051073.1:g.54094G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.721G>A MANE Select NP_008870.2:p.Glu241Lys
ENST00000216373.10:c.721G>A MANE Select ENSP00000216373.5:p.Glu241Lys
NM_006939.2:c.721G>A NP_008870.2:p.Glu241Lys
NM_006939.3:c.721G>A NP_008870.2:p.Glu241Lys
ENST00000216373.9:c.721G>A ENSP00000216373.5:p.Glu241Lys
ENST00000543680.5:c.721G>A ENSP00000445328.1:p.Glu241Lys
ENST00000556469.5:n.488G>A
XM_005268021.1:c.541G>A XP_005268078.1:p.Glu181Lys
XM_011537103.1:c.682G>A XP_011535405.1:p.Glu228Lys
XM_011537104.1:c.721G>A XP_011535406.1:p.Glu241Lys
XR_943842.1:n.954-1187C>T
XR_943843.1:n.954-1187C>T