Canonical Allele Identifier: CA2400692610
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695456_29695457delinsAT , CM000684.2:g.29695456_29695457delinsAT GRCh38
NC_000022.10:g.30091445_30091446delinsAT , CM000684.1:g.30091445_30091446delinsAT GRCh37
NC_000022.9:g.28421445_28421446delinsAT NCBI36
NG_009057.1:g.96901_96902delinsAT , LRG_511:g.96901_96902delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*654_*655delinsAT MANE Select ENSP00000344666.5:n.*654_*655delinsAT
ENST00000672461.1:c.*501+213_*501+214delinsAT ENSP00000500919.1:n.*501+213_*501+214delinsAT
ENST00000672896.1:c.*714_*715delinsAT ENSP00000500117.1:n.*714_*715delinsAT
ENST00000338641.8:c.*654_*655delinsAT ENSP00000344666.4:n.*654_*655delinsAT
ENST00000361452.8:c.*714_*715delinsAT ENSP00000354897.4:n.*714_*715delinsAT
ENST00000413209.6:c.*654_*655delinsAT ENSP00000409921.2:n.*654_*655delinsAT
NM_000268.3:c.*654_*655delinsAT , LRG_511t1:c.*654_*655delinsAT NP_000259.1:n.*654_*655delinsAT
NM_016418.5:c.*714_*715delinsAT , LRG_511t2:c.*714_*715delinsAT NP_057502.2:n.*714_*715delinsAT
NM_181828.2:c.*714_*715delinsAT NP_861966.1:n.*714_*715delinsAT
NM_181829.2:c.*714_*715delinsAT NP_861967.1:n.*714_*715delinsAT
NM_181830.2:c.*714_*715delinsAT NP_861968.1:n.*714_*715delinsAT
NM_181832.2:c.*729_*730delinsAT NP_861970.1:n.*729_*730delinsAT
NM_181833.2:c.*654_*655delinsAT NP_861971.1:n.*654_*655delinsAT
NR_156186.1:n.3001_3002delinsAT
XM_017028810.1:c.*714_*715delinsAT XP_016884299.1:n.*714_*715delinsAT
NM_000268.4:c.*654_*655delinsAT MANE Select NP_000259.1:n.*654_*655delinsAT
NM_181828.3:c.*714_*715delinsAT NP_861966.1:n.*714_*715delinsAT
NM_181829.3:c.*714_*715delinsAT NP_861967.1:n.*714_*715delinsAT
NM_181830.3:c.*714_*715delinsAT NP_861968.1:n.*714_*715delinsAT
NM_181832.3:c.*729_*730delinsAT NP_861970.1:n.*729_*730delinsAT
NR_156186.2:n.2924_2925delinsAT
NM_181833.3:c.*654_*655delinsAT NP_861971.1:n.*654_*655delinsAT