Canonical Allele Identifier: CA2741711497
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696066_29696072dup , CM000684.2:g.29696066_29696072dup GRCh38
NC_000022.10:g.30092055_30092061dup , CM000684.1:g.30092055_30092061dup GRCh37
NC_000022.9:g.28422055_28422061dup NCBI36
NG_009057.1:g.97511_97517dup , LRG_511:g.97511_97517dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*1264_*1270dup MANE Select ENSP00000344666.5:n.*1264_*1270dup
ENST00000672461.1:c.*501+823_*501+829dup ENSP00000500919.1:n.*501+823_*501+829dup
ENST00000672896.1:c.*1324_*1330dup ENSP00000500117.1:n.*1324_*1330dup
ENST00000338641.8:c.*1264_*1270dup ENSP00000344666.4:n.*1264_*1270dup
ENST00000361452.8:c.*1324_*1330dup ENSP00000354897.4:n.*1324_*1330dup
ENST00000413209.6:c.*1264_*1270dup ENSP00000409921.2:n.*1264_*1270dup
NM_000268.3:c.*1264_*1270dup , LRG_511t1:c.*1264_*1270dup NP_000259.1:n.*1264_*1270dup
NM_016418.5:c.*1324_*1330dup , LRG_511t2:c.*1324_*1330dup NP_057502.2:n.*1324_*1330dup
NM_181828.2:c.*1324_*1330dup NP_861966.1:n.*1324_*1330dup
NM_181829.2:c.*1324_*1330dup NP_861967.1:n.*1324_*1330dup
NM_181830.2:c.*1324_*1330dup NP_861968.1:n.*1324_*1330dup
NM_181832.2:c.*1339_*1345dup NP_861970.1:n.*1339_*1345dup
NM_181833.2:c.*1264_*1270dup NP_861971.1:n.*1264_*1270dup
NR_156186.1:n.3611_3617dup
XM_017028810.1:c.*1324_*1330dup XP_016884299.1:n.*1324_*1330dup
NM_000268.4:c.*1264_*1270dup MANE Select NP_000259.1:n.*1264_*1270dup
NM_181828.3:c.*1324_*1330dup NP_861966.1:n.*1324_*1330dup
NM_181829.3:c.*1324_*1330dup NP_861967.1:n.*1324_*1330dup
NM_181830.3:c.*1324_*1330dup NP_861968.1:n.*1324_*1330dup
NM_181832.3:c.*1339_*1345dup NP_861970.1:n.*1339_*1345dup
NR_156186.2:n.3534_3540dup
NM_181833.3:c.*1264_*1270dup NP_861971.1:n.*1264_*1270dup