Canonical Allele Identifier: CA2793260779
Gene: MAML2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96258958_96258966del , CM000673.2:g.96258958_96258966del GRCh38
NC_000011.9:g.95992122_95992130del , CM000673.1:g.95992122_95992130del GRCh37
NC_000011.8:g.95631770_95631778del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.513+82417_513+82425del MANE Select ENSP00000434552.1:n.513+82417_513+82425del
ENST00000524717.5:c.513+82417_513+82425del ENSP00000434552.1:n.513+82417_513+82425del
NM_032427.3:c.513+82417_513+82425del NP_115803.1:n.513+82417_513+82425del
XM_011543024.1:c.-172+83942_-172+83950del XP_011541326.1:n.-172+83942_-172+83950del
XM_011543025.1:c.513+82417_513+82425del XP_011541327.1:n.513+82417_513+82425del
XM_011543024.3:c.-172+83942_-172+83950del XP_011541326.1:n.-172+83942_-172+83950del
XM_011543025.2:c.513+82417_513+82425del XP_011541327.1:n.513+82417_513+82425del
NM_032427.4:c.513+82417_513+82425del MANE Select NP_115803.1:n.513+82417_513+82425del