Canonical Allele Identifier: CA2818695221
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698001del , CM000684.2:g.29698001del GRCh38
NC_000022.10:g.30093990del , CM000684.1:g.30093990del GRCh37
NC_000022.9:g.28423990del NCBI36
NG_009057.1:g.99446del , LRG_511:g.99446del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*3199del MANE Select ENSP00000344666.5:n.*3199del
ENST00000672896.1:c.*3259del ENSP00000500117.1:n.*3259del
ENST00000338641.8:c.*3199del ENSP00000344666.4:n.*3199del
ENST00000361452.8:c.*3259del ENSP00000354897.4:n.*3259del
ENST00000413209.6:c.*3199del ENSP00000409921.2:n.*3199del
NM_000268.3:c.*3199del , LRG_511t1:c.*3199del NP_000259.1:n.*3199del
NM_016418.5:c.*3259del , LRG_511t2:c.*3259del NP_057502.2:n.*3259del
NM_181828.2:c.*3259del NP_861966.1:n.*3259del
NM_181829.2:c.*3259del NP_861967.1:n.*3259del
NM_181830.2:c.*3259del NP_861968.1:n.*3259del
NM_181832.2:c.*3274del NP_861970.1:n.*3274del
NM_181833.2:c.*3199del NP_861971.1:n.*3199del
NR_156186.1:n.5546del
XM_017028810.1:c.*3259del XP_016884299.1:n.*3259del
NM_000268.4:c.*3199del MANE Select NP_000259.1:n.*3199del
NM_181828.3:c.*3259del NP_861966.1:n.*3259del
NM_181829.3:c.*3259del NP_861967.1:n.*3259del
NM_181830.3:c.*3259del NP_861968.1:n.*3259del
NM_181832.3:c.*3274del NP_861970.1:n.*3274del
NR_156186.2:n.5469del
NM_181833.3:c.*3199del NP_861971.1:n.*3199del