Canonical Allele Identifier: CA2400693775
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697876_29697877delinsCT , CM000684.2:g.29697876_29697877delinsCT GRCh38
NC_000022.10:g.30093865_30093866delinsCT , CM000684.1:g.30093865_30093866delinsCT GRCh37
NC_000022.9:g.28423865_28423866delinsCT NCBI36
NG_009057.1:g.99321_99322delinsCT , LRG_511:g.99321_99322delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*3074_*3075delinsCT MANE Select ENSP00000344666.5:n.*3074_*3075delinsCT
ENST00000672896.1:c.*3134_*3135delinsCT ENSP00000500117.1:n.*3134_*3135delinsCT
ENST00000338641.8:c.*3074_*3075delinsCT ENSP00000344666.4:n.*3074_*3075delinsCT
ENST00000361452.8:c.*3134_*3135delinsCT ENSP00000354897.4:n.*3134_*3135delinsCT
ENST00000413209.6:c.*3074_*3075delinsCT ENSP00000409921.2:n.*3074_*3075delinsCT
NM_000268.3:c.*3074_*3075delinsCT , LRG_511t1:c.*3074_*3075delinsCT NP_000259.1:n.*3074_*3075delinsCT
NM_016418.5:c.*3134_*3135delinsCT , LRG_511t2:c.*3134_*3135delinsCT NP_057502.2:n.*3134_*3135delinsCT
NM_181828.2:c.*3134_*3135delinsCT NP_861966.1:n.*3134_*3135delinsCT
NM_181829.2:c.*3134_*3135delinsCT NP_861967.1:n.*3134_*3135delinsCT
NM_181830.2:c.*3134_*3135delinsCT NP_861968.1:n.*3134_*3135delinsCT
NM_181832.2:c.*3149_*3150delinsCT NP_861970.1:n.*3149_*3150delinsCT
NM_181833.2:c.*3074_*3075delinsCT NP_861971.1:n.*3074_*3075delinsCT
NR_156186.1:n.5421_5422delinsCT
XM_017028810.1:c.*3134_*3135delinsCT XP_016884299.1:n.*3134_*3135delinsCT
NM_000268.4:c.*3074_*3075delinsCT MANE Select NP_000259.1:n.*3074_*3075delinsCT
NM_181828.3:c.*3134_*3135delinsCT NP_861966.1:n.*3134_*3135delinsCT
NM_181829.3:c.*3134_*3135delinsCT NP_861967.1:n.*3134_*3135delinsCT
NM_181830.3:c.*3134_*3135delinsCT NP_861968.1:n.*3134_*3135delinsCT
NM_181832.3:c.*3149_*3150delinsCT NP_861970.1:n.*3149_*3150delinsCT
NR_156186.2:n.5344_5345delinsCT
NM_181833.3:c.*3074_*3075delinsCT NP_861971.1:n.*3074_*3075delinsCT