Canonical Allele Identifier: CA2656033338
Gene: NF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695149del , CM000684.2:g.29695149del GRCh38
NC_000022.10:g.30091138del , CM000684.1:g.30091138del GRCh37
NC_000022.9:g.28421138del NCBI36
NG_009057.1:g.96594del , LRG_511:g.96594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*347del MANE Select ENSP00000344666.5:n.*347del
ENST00000672461.1:c.*407del ENSP00000500919.1:n.*407del
ENST00000672896.1:c.*407del ENSP00000500117.1:n.*407del
ENST00000338641.8:c.*347del ENSP00000344666.4:n.*347del
ENST00000361452.8:c.*407del ENSP00000354897.4:n.*407del
ENST00000413209.6:c.*347del ENSP00000409921.2:n.*347del
NM_000268.3:c.*347del , LRG_511t1:c.*347del NP_000259.1:n.*347del
NM_016418.5:c.*407del , LRG_511t2:c.*407del NP_057502.2:n.*407del
NM_181828.2:c.*407del NP_861966.1:n.*407del
NM_181829.2:c.*407del NP_861967.1:n.*407del
NM_181830.2:c.*407del NP_861968.1:n.*407del
NM_181832.2:c.*422del NP_861970.1:n.*422del
NM_181833.2:c.*347del NP_861971.1:n.*347del
NR_156186.1:n.2694del
XM_017028810.1:c.*407del XP_016884299.1:n.*407del
NM_000268.4:c.*347del MANE Select NP_000259.1:n.*347del
NM_181828.3:c.*407del NP_861966.1:n.*407del
NM_181829.3:c.*407del NP_861967.1:n.*407del
NM_181830.3:c.*407del NP_861968.1:n.*407del
NM_181832.3:c.*422del NP_861970.1:n.*422del
NR_156186.2:n.2617del
NM_181833.3:c.*347del NP_861971.1:n.*347del