Canonical Allele Identifier: CA2818694973
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696066_29696067insCT , CM000684.2:g.29696066_29696067insCT GRCh38
NC_000022.10:g.30092055_30092056insCT , CM000684.1:g.30092055_30092056insCT GRCh37
NC_000022.9:g.28422055_28422056insCT NCBI36
NG_009057.1:g.97511_97512insCT , LRG_511:g.97511_97512insCT

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*1264_*1265insCT MANE Select ENSP00000344666.5:n.*1264_*1265insCT
ENST00000672461.1:c.*501+823_*501+824insCT ENSP00000500919.1:n.*501+823_*501+824insCT
ENST00000672896.1:c.*1324_*1325insCT ENSP00000500117.1:n.*1324_*1325insCT
ENST00000338641.8:c.*1264_*1265insCT ENSP00000344666.4:n.*1264_*1265insCT
ENST00000361452.8:c.*1324_*1325insCT ENSP00000354897.4:n.*1324_*1325insCT
ENST00000413209.6:c.*1264_*1265insCT ENSP00000409921.2:n.*1264_*1265insCT
NM_000268.3:c.*1264_*1265insCT , LRG_511t1:c.*1264_*1265insCT NP_000259.1:n.*1264_*1265insCT
NM_016418.5:c.*1324_*1325insCT , LRG_511t2:c.*1324_*1325insCT NP_057502.2:n.*1324_*1325insCT
NM_181828.2:c.*1324_*1325insCT NP_861966.1:n.*1324_*1325insCT
NM_181829.2:c.*1324_*1325insCT NP_861967.1:n.*1324_*1325insCT
NM_181830.2:c.*1324_*1325insCT NP_861968.1:n.*1324_*1325insCT
NM_181832.2:c.*1339_*1340insCT NP_861970.1:n.*1339_*1340insCT
NM_181833.2:c.*1264_*1265insCT NP_861971.1:n.*1264_*1265insCT
NR_156186.1:n.3611_3612insCT
XM_017028810.1:c.*1324_*1325insCT XP_016884299.1:n.*1324_*1325insCT
NM_000268.4:c.*1264_*1265insCT MANE Select NP_000259.1:n.*1264_*1265insCT
NM_181828.3:c.*1324_*1325insCT NP_861966.1:n.*1324_*1325insCT
NM_181829.3:c.*1324_*1325insCT NP_861967.1:n.*1324_*1325insCT
NM_181830.3:c.*1324_*1325insCT NP_861968.1:n.*1324_*1325insCT
NM_181832.3:c.*1339_*1340insCT NP_861970.1:n.*1339_*1340insCT
NR_156186.2:n.3534_3535insCT
NM_181833.3:c.*1264_*1265insCT NP_861971.1:n.*1264_*1265insCT