Canonical Allele Identifier: CA2400693227
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696816_29696817delinsCT , CM000684.2:g.29696816_29696817delinsCT GRCh38
NC_000022.10:g.30092805_30092806delinsCT , CM000684.1:g.30092805_30092806delinsCT GRCh37
NC_000022.9:g.28422805_28422806delinsCT NCBI36
NG_009057.1:g.98261_98262delinsCT , LRG_511:g.98261_98262delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*2014_*2015delinsCT MANE Select ENSP00000344666.5:n.*2014_*2015delinsCT
ENST00000672461.1:c.*502-445_*502-444delinsCT ENSP00000500919.1:n.*502-445_*502-444deli...
ENST00000672896.1:c.*2074_*2075delinsCT ENSP00000500117.1:n.*2074_*2075delinsCT
ENST00000338641.8:c.*2014_*2015delinsCT ENSP00000344666.4:n.*2014_*2015delinsCT
ENST00000361452.8:c.*2074_*2075delinsCT ENSP00000354897.4:n.*2074_*2075delinsCT
ENST00000413209.6:c.*2014_*2015delinsCT ENSP00000409921.2:n.*2014_*2015delinsCT
NM_000268.3:c.*2014_*2015delinsCT , LRG_511t1:c.*2014_*2015delinsCT NP_000259.1:n.*2014_*2015delinsCT
NM_016418.5:c.*2074_*2075delinsCT , LRG_511t2:c.*2074_*2075delinsCT NP_057502.2:n.*2074_*2075delinsCT
NM_181828.2:c.*2074_*2075delinsCT NP_861966.1:n.*2074_*2075delinsCT
NM_181829.2:c.*2074_*2075delinsCT NP_861967.1:n.*2074_*2075delinsCT
NM_181830.2:c.*2074_*2075delinsCT NP_861968.1:n.*2074_*2075delinsCT
NM_181832.2:c.*2089_*2090delinsCT NP_861970.1:n.*2089_*2090delinsCT
NM_181833.2:c.*2014_*2015delinsCT NP_861971.1:n.*2014_*2015delinsCT
NR_156186.1:n.4361_4362delinsCT
XM_017028810.1:c.*2074_*2075delinsCT XP_016884299.1:n.*2074_*2075delinsCT
NM_000268.4:c.*2014_*2015delinsCT MANE Select NP_000259.1:n.*2014_*2015delinsCT
NM_181828.3:c.*2074_*2075delinsCT NP_861966.1:n.*2074_*2075delinsCT
NM_181829.3:c.*2074_*2075delinsCT NP_861967.1:n.*2074_*2075delinsCT
NM_181830.3:c.*2074_*2075delinsCT NP_861968.1:n.*2074_*2075delinsCT
NM_181832.3:c.*2089_*2090delinsCT NP_861970.1:n.*2089_*2090delinsCT
NR_156186.2:n.4284_4285delinsCT
NM_181833.3:c.*2014_*2015delinsCT NP_861971.1:n.*2014_*2015delinsCT