Canonical Allele Identifier: CA638997311
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs886057354

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696085_29696089dup , CM000684.2:g.29696085_29696089dup GRCh38
NC_000022.10:g.30092074_30092078dup , CM000684.1:g.30092074_30092078dup GRCh37
NC_000022.9:g.28422074_28422078dup NCBI36
NG_009057.1:g.97530_97534dup , LRG_511:g.97530_97534dup

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*1283_*1287dup MANE Select ENSP00000344666.5:n.*1283_*1287dup
ENST00000672461.1:c.*501+842_*501+846dup ENSP00000500919.1:n.*501+842_*501+846dup
ENST00000672896.1:c.*1343_*1347dup ENSP00000500117.1:n.*1343_*1347dup
ENST00000338641.8:c.*1283_*1287dup ENSP00000344666.4:n.*1283_*1287dup
ENST00000361452.8:c.*1343_*1347dup ENSP00000354897.4:n.*1343_*1347dup
ENST00000413209.6:c.*1283_*1287dup ENSP00000409921.2:n.*1283_*1287dup
NM_000268.3:c.*1283_*1287dup , LRG_511t1:c.*1283_*1287dup NP_000259.1:n.*1283_*1287dup
NM_016418.5:c.*1343_*1347dup , LRG_511t2:c.*1343_*1347dup NP_057502.2:n.*1343_*1347dup
NM_181828.2:c.*1343_*1347dup NP_861966.1:n.*1343_*1347dup
NM_181829.2:c.*1343_*1347dup NP_861967.1:n.*1343_*1347dup
NM_181830.2:c.*1343_*1347dup NP_861968.1:n.*1343_*1347dup
NM_181832.2:c.*1358_*1362dup NP_861970.1:n.*1358_*1362dup
NM_181833.2:c.*1283_*1287dup NP_861971.1:n.*1283_*1287dup
NR_156186.1:n.3630_3634dup
XM_017028810.1:c.*1343_*1347dup XP_016884299.1:n.*1343_*1347dup
NM_000268.4:c.*1283_*1287dup MANE Select NP_000259.1:n.*1283_*1287dup
NM_181828.3:c.*1343_*1347dup NP_861966.1:n.*1343_*1347dup
NM_181829.3:c.*1343_*1347dup NP_861967.1:n.*1343_*1347dup
NM_181830.3:c.*1343_*1347dup NP_861968.1:n.*1343_*1347dup
NM_181832.3:c.*1358_*1362dup NP_861970.1:n.*1358_*1362dup
NR_156186.2:n.3553_3557dup
NM_181833.3:c.*1283_*1287dup NP_861971.1:n.*1283_*1287dup