Canonical Allele Identifier: CA2561240433
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696068_29696069insCT , CM000684.2:g.29696068_29696069insCT GRCh38
NC_000022.10:g.30092057_30092058insCT , CM000684.1:g.30092057_30092058insCT GRCh37
NC_000022.9:g.28422057_28422058insCT NCBI36
NG_009057.1:g.97513_97514insCT , LRG_511:g.97513_97514insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*1266_*1267insCT MANE Select ENSP00000344666.5:n.*1266_*1267insCT
ENST00000672461.1:c.*501+825_*501+826insCT ENSP00000500919.1:n.*501+825_*501+826insCT
ENST00000672896.1:c.*1326_*1327insCT ENSP00000500117.1:n.*1326_*1327insCT
ENST00000338641.8:c.*1266_*1267insCT ENSP00000344666.4:n.*1266_*1267insCT
ENST00000361452.8:c.*1326_*1327insCT ENSP00000354897.4:n.*1326_*1327insCT
ENST00000413209.6:c.*1266_*1267insCT ENSP00000409921.2:n.*1266_*1267insCT
NM_000268.3:c.*1266_*1267insCT , LRG_511t1:c.*1266_*1267insCT NP_000259.1:n.*1266_*1267insCT
NM_016418.5:c.*1326_*1327insCT , LRG_511t2:c.*1326_*1327insCT NP_057502.2:n.*1326_*1327insCT
NM_181828.2:c.*1326_*1327insCT NP_861966.1:n.*1326_*1327insCT
NM_181829.2:c.*1326_*1327insCT NP_861967.1:n.*1326_*1327insCT
NM_181830.2:c.*1326_*1327insCT NP_861968.1:n.*1326_*1327insCT
NM_181832.2:c.*1341_*1342insCT NP_861970.1:n.*1341_*1342insCT
NM_181833.2:c.*1266_*1267insCT NP_861971.1:n.*1266_*1267insCT
NR_156186.1:n.3613_3614insCT
XM_017028810.1:c.*1326_*1327insCT XP_016884299.1:n.*1326_*1327insCT
NM_000268.4:c.*1266_*1267insCT MANE Select NP_000259.1:n.*1266_*1267insCT
NM_181828.3:c.*1326_*1327insCT NP_861966.1:n.*1326_*1327insCT
NM_181829.3:c.*1326_*1327insCT NP_861967.1:n.*1326_*1327insCT
NM_181830.3:c.*1326_*1327insCT NP_861968.1:n.*1326_*1327insCT
NM_181832.3:c.*1341_*1342insCT NP_861970.1:n.*1341_*1342insCT
NR_156186.2:n.3536_3537insCT
NM_181833.3:c.*1266_*1267insCT NP_861971.1:n.*1266_*1267insCT