Canonical Allele Identifier: CA2656036032

Gene: NF2

Linked Data

• gnomAD v4: 22-29696794-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696795_29696796del , CM000684.2:g.29696795_29696796del	GRCh38
NC_000022.10:g.30092784_30092785del , CM000684.1:g.30092784_30092785del	GRCh37
NC_000022.9:g.28422784_28422785del	NCBI36
NG_009057.1:g.98240_98241del , LRG_511:g.98240_98241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1993_*1994del MANE Select	ENSP00000344666.5:n.*1993_*1994del
ENST00000672461.1:c.*502-466_*502-465del	ENSP00000500919.1:n.*502-466_*502-465del
ENST00000672896.1:c.*2053_*2054del	ENSP00000500117.1:n.*2053_*2054del
ENST00000338641.8:c.*1993_*1994del	ENSP00000344666.4:n.*1993_*1994del
ENST00000361452.8:c.*2053_*2054del	ENSP00000354897.4:n.*2053_*2054del
ENST00000413209.6:c.*1993_*1994del	ENSP00000409921.2:n.*1993_*1994del
NM_000268.3:c.*1993_*1994del , LRG_511t1:c.*1993_*1994del	NP_000259.1:n.*1993_*1994del
NM_016418.5:c.*2053_*2054del , LRG_511t2:c.*2053_*2054del	NP_057502.2:n.*2053_*2054del
NM_181828.2:c.*2053_*2054del	NP_861966.1:n.*2053_*2054del
NM_181829.2:c.*2053_*2054del	NP_861967.1:n.*2053_*2054del
NM_181830.2:c.*2053_*2054del	NP_861968.1:n.*2053_*2054del
NM_181832.2:c.*2068_*2069del	NP_861970.1:n.*2068_*2069del
NM_181833.2:c.*1993_*1994del	NP_861971.1:n.*1993_*1994del
NR_156186.1:n.4340_4341del
XM_017028810.1:c.*2053_*2054del	XP_016884299.1:n.*2053_*2054del
NM_000268.4:c.*1993_*1994del MANE Select	NP_000259.1:n.*1993_*1994del
NM_181828.3:c.*2053_*2054del	NP_861966.1:n.*2053_*2054del
NM_181829.3:c.*2053_*2054del	NP_861967.1:n.*2053_*2054del
NM_181830.3:c.*2053_*2054del	NP_861968.1:n.*2053_*2054del
NM_181832.3:c.*2068_*2069del	NP_861970.1:n.*2068_*2069del
NR_156186.2:n.4263_4264del
NM_181833.3:c.*1993_*1994del	NP_861971.1:n.*1993_*1994del