Canonical Allele Identifier: CA2841614451
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199834_50199835del , CM000676.2:g.50199834_50199835del GRCh38
NC_000014.8:g.50666552_50666553del , CM000676.1:g.50666552_50666553del GRCh37
NC_000014.7:g.49736302_49736303del NCBI36
NG_051073.1:g.36859_36860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.366_367del MANE Select ENSP00000216373.5:p.Asp123LeufsTer17
ENST00000216373.9:c.366_367del ENSP00000216373.5:p.Asp123LeufsTer17
ENST00000543680.5:c.366_367del ENSP00000445328.1:p.Asp123LeufsTer17
ENST00000555666.1:n.545_546del
ENST00000556469.5:n.337_338del
NM_006939.2:c.366_367del NP_008870.2:p.Asp123LeufsTer17
XM_005268021.1:c.186_187del XP_005268078.1:p.Asp63LeufsTer17
XM_011537103.1:c.327_328del XP_011535405.1:p.Asp110LeufsTer17
XM_011537104.1:c.366_367del XP_011535406.1:p.Asp123LeufsTer17
XR_943842.1:n.1039+15962_1039+15963del
XR_943843.1:n.1039+15962_1039+15963del
NM_006939.3:c.366_367del NP_008870.2:p.Asp123LeufsTer17
NM_006939.4:c.366_367del MANE Select NP_008870.2:p.Asp123LeufsTer17