Canonical Allele Identifier: CA2818694959
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696065del , CM000684.2:g.29696065del GRCh38
NC_000022.10:g.30092054del , CM000684.1:g.30092054del GRCh37
NC_000022.9:g.28422054del NCBI36
NG_009057.1:g.97510del , LRG_511:g.97510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*1263del MANE Select ENSP00000344666.5:n.*1263del
ENST00000672461.1:c.*501+822del ENSP00000500919.1:n.*501+822del
ENST00000672896.1:c.*1323del ENSP00000500117.1:n.*1323del
ENST00000338641.8:c.*1263del ENSP00000344666.4:n.*1263del
ENST00000361452.8:c.*1323del ENSP00000354897.4:n.*1323del
ENST00000413209.6:c.*1263del ENSP00000409921.2:n.*1263del
NM_000268.3:c.*1263del , LRG_511t1:c.*1263del NP_000259.1:n.*1263del
NM_016418.5:c.*1323del , LRG_511t2:c.*1323del NP_057502.2:n.*1323del
NM_181828.2:c.*1323del NP_861966.1:n.*1323del
NM_181829.2:c.*1323del NP_861967.1:n.*1323del
NM_181830.2:c.*1323del NP_861968.1:n.*1323del
NM_181832.2:c.*1338del NP_861970.1:n.*1338del
NM_181833.2:c.*1263del NP_861971.1:n.*1263del
NR_156186.1:n.3610del
XM_017028810.1:c.*1323del XP_016884299.1:n.*1323del
NM_000268.4:c.*1263del MANE Select NP_000259.1:n.*1263del
NM_181828.3:c.*1323del NP_861966.1:n.*1323del
NM_181829.3:c.*1323del NP_861967.1:n.*1323del
NM_181830.3:c.*1323del NP_861968.1:n.*1323del
NM_181832.3:c.*1338del NP_861970.1:n.*1338del
NR_156186.2:n.3533del
NM_181833.3:c.*1263del NP_861971.1:n.*1263del