Canonical Allele Identifier: CA2400692986
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696178_29696179delinsAT , CM000684.2:g.29696178_29696179delinsAT GRCh38
NC_000022.10:g.30092167_30092168delinsAT , CM000684.1:g.30092167_30092168delinsAT GRCh37
NC_000022.9:g.28422167_28422168delinsAT NCBI36
NG_009057.1:g.97623_97624delinsAT , LRG_511:g.97623_97624delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*1376_*1377delinsAT MANE Select ENSP00000344666.5:n.*1376_*1377delinsAT
ENST00000672461.1:c.*501+935_*501+936delinsAT ENSP00000500919.1:n.*501+935_*501+936delinsAT
ENST00000672896.1:c.*1436_*1437delinsAT ENSP00000500117.1:n.*1436_*1437delinsAT
ENST00000338641.8:c.*1376_*1377delinsAT ENSP00000344666.4:n.*1376_*1377delinsAT
ENST00000361452.8:c.*1436_*1437delinsAT ENSP00000354897.4:n.*1436_*1437delinsAT
ENST00000413209.6:c.*1376_*1377delinsAT ENSP00000409921.2:n.*1376_*1377delinsAT
NM_000268.3:c.*1376_*1377delinsAT , LRG_511t1:c.*1376_*1377delinsAT NP_000259.1:n.*1376_*1377delinsAT
NM_016418.5:c.*1436_*1437delinsAT , LRG_511t2:c.*1436_*1437delinsAT NP_057502.2:n.*1436_*1437delinsAT
NM_181828.2:c.*1436_*1437delinsAT NP_861966.1:n.*1436_*1437delinsAT
NM_181829.2:c.*1436_*1437delinsAT NP_861967.1:n.*1436_*1437delinsAT
NM_181830.2:c.*1436_*1437delinsAT NP_861968.1:n.*1436_*1437delinsAT
NM_181832.2:c.*1451_*1452delinsAT NP_861970.1:n.*1451_*1452delinsAT
NM_181833.2:c.*1376_*1377delinsAT NP_861971.1:n.*1376_*1377delinsAT
NR_156186.1:n.3723_3724delinsAT
XM_017028810.1:c.*1436_*1437delinsAT XP_016884299.1:n.*1436_*1437delinsAT
NM_000268.4:c.*1376_*1377delinsAT MANE Select NP_000259.1:n.*1376_*1377delinsAT
NM_181828.3:c.*1436_*1437delinsAT NP_861966.1:n.*1436_*1437delinsAT
NM_181829.3:c.*1436_*1437delinsAT NP_861967.1:n.*1436_*1437delinsAT
NM_181830.3:c.*1436_*1437delinsAT NP_861968.1:n.*1436_*1437delinsAT
NM_181832.3:c.*1451_*1452delinsAT NP_861970.1:n.*1451_*1452delinsAT
NR_156186.2:n.3646_3647delinsAT
NM_181833.3:c.*1376_*1377delinsAT NP_861971.1:n.*1376_*1377delinsAT