Canonical Allele Identifier: CA2656036117

Gene: NF2

Linked Data

• gnomAD v4: 22-29696927-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696928del , CM000684.2:g.29696928del	GRCh38
NC_000022.10:g.30092917del , CM000684.1:g.30092917del	GRCh37
NC_000022.9:g.28422917del	NCBI36
NG_009057.1:g.98373del , LRG_511:g.98373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2126del MANE Select	ENSP00000344666.5:n.*2126del
ENST00000672461.1:c.*502-333del	ENSP00000500919.1:n.*502-333del
ENST00000672896.1:c.*2186del	ENSP00000500117.1:n.*2186del
ENST00000338641.8:c.*2126del	ENSP00000344666.4:n.*2126del
ENST00000361452.8:c.*2186del	ENSP00000354897.4:n.*2186del
ENST00000413209.6:c.*2126del	ENSP00000409921.2:n.*2126del
NM_000268.3:c.*2126del , LRG_511t1:c.*2126del	NP_000259.1:n.*2126del
NM_016418.5:c.*2186del , LRG_511t2:c.*2186del	NP_057502.2:n.*2186del
NM_181828.2:c.*2186del	NP_861966.1:n.*2186del
NM_181829.2:c.*2186del	NP_861967.1:n.*2186del
NM_181830.2:c.*2186del	NP_861968.1:n.*2186del
NM_181832.2:c.*2201del	NP_861970.1:n.*2201del
NM_181833.2:c.*2126del	NP_861971.1:n.*2126del
NR_156186.1:n.4473del
XM_017028810.1:c.*2186del	XP_016884299.1:n.*2186del
NM_000268.4:c.*2126del MANE Select	NP_000259.1:n.*2126del
NM_181828.3:c.*2186del	NP_861966.1:n.*2186del
NM_181829.3:c.*2186del	NP_861967.1:n.*2186del
NM_181830.3:c.*2186del	NP_861968.1:n.*2186del
NM_181832.3:c.*2201del	NP_861970.1:n.*2201del
NR_156186.2:n.4396del
NM_181833.3:c.*2126del	NP_861971.1:n.*2126del