Canonical Allele Identifier: CA2656033116

Gene: NF2

Linked Data

• gnomAD v4: 22-29694964-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694966dup , CM000684.2:g.29694966dup	GRCh38
NC_000022.10:g.30090955dup , CM000684.1:g.30090955dup	GRCh37
NC_000022.9:g.28420955dup	NCBI36
NG_009057.1:g.96411dup , LRG_511:g.96411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*164dup	ENSP00000354529.6:n.*164dup
ENST00000673312.2:c.*1446dup	ENSP00000500186.2:n.*1446dup
ENST00000338641.10:c.*164dup MANE Select	ENSP00000344666.5:n.*164dup
ENST00000361166.9:c.1370dup	ENSP00000354529.5:n.1370dup
ENST00000672461.1:c.*224dup	ENSP00000500919.1:n.*224dup
ENST00000672896.1:c.*224dup	ENSP00000500117.1:n.*224dup
ENST00000673312.1:c.1971dup	ENSP00000500186.1:n.1971dup
ENST00000338641.8:c.*164dup	ENSP00000344666.4:n.*164dup
ENST00000361452.8:c.*224dup	ENSP00000354897.4:n.*224dup
ENST00000413209.6:c.*164dup	ENSP00000409921.2:n.*164dup
NM_000268.3:c.*164dup , LRG_511t1:c.*164dup	NP_000259.1:n.*164dup
NM_016418.5:c.*224dup , LRG_511t2:c.*224dup	NP_057502.2:n.*224dup
NM_181828.2:c.*224dup	NP_861966.1:n.*224dup
NM_181829.2:c.*224dup	NP_861967.1:n.*224dup
NM_181830.2:c.*224dup	NP_861968.1:n.*224dup
NM_181832.2:c.*239dup	NP_861970.1:n.*239dup
NM_181833.2:c.*164dup	NP_861971.1:n.*164dup
NR_156186.1:n.2511dup
XM_017028809.2:c.*164dup	XP_016884298.1:n.*164dup
XM_017028810.1:c.*224dup	XP_016884299.1:n.*224dup
NM_000268.4:c.*164dup MANE Select	NP_000259.1:n.*164dup
NM_181828.3:c.*224dup	NP_861966.1:n.*224dup
NM_181829.3:c.*224dup	NP_861967.1:n.*224dup
NM_181830.3:c.*224dup	NP_861968.1:n.*224dup
NM_181832.3:c.*239dup	NP_861970.1:n.*239dup
NR_156186.2:n.2434dup
NM_181833.3:c.*164dup	NP_861971.1:n.*164dup