Canonical Allele Identifier: CA2656036145

Gene: NF2

Linked Data

• gnomAD v4: 22-29696962-GTGTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696963_29696967del , CM000684.2:g.29696963_29696967del	GRCh38
NC_000022.10:g.30092952_30092956del , CM000684.1:g.30092952_30092956del	GRCh37
NC_000022.9:g.28422952_28422956del	NCBI36
NG_009057.1:g.98408_98412del , LRG_511:g.98408_98412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2161_*2165del MANE Select	ENSP00000344666.5:n.*2161_*2165del
ENST00000672461.1:c.*502-298_*502-294del	ENSP00000500919.1:n.*502-298_*502-294del
ENST00000672896.1:c.*2221_*2225del	ENSP00000500117.1:n.*2221_*2225del
ENST00000338641.8:c.*2161_*2165del	ENSP00000344666.4:n.*2161_*2165del
ENST00000361452.8:c.*2221_*2225del	ENSP00000354897.4:n.*2221_*2225del
ENST00000413209.6:c.*2161_*2165del	ENSP00000409921.2:n.*2161_*2165del
NM_000268.3:c.*2161_*2165del , LRG_511t1:c.*2161_*2165del	NP_000259.1:n.*2161_*2165del
NM_016418.5:c.*2221_*2225del , LRG_511t2:c.*2221_*2225del	NP_057502.2:n.*2221_*2225del
NM_181828.2:c.*2221_*2225del	NP_861966.1:n.*2221_*2225del
NM_181829.2:c.*2221_*2225del	NP_861967.1:n.*2221_*2225del
NM_181830.2:c.*2221_*2225del	NP_861968.1:n.*2221_*2225del
NM_181832.2:c.*2236_*2240del	NP_861970.1:n.*2236_*2240del
NM_181833.2:c.*2161_*2165del	NP_861971.1:n.*2161_*2165del
NR_156186.1:n.4508_4512del
XM_017028810.1:c.*2221_*2225del	XP_016884299.1:n.*2221_*2225del
NM_000268.4:c.*2161_*2165del MANE Select	NP_000259.1:n.*2161_*2165del
NM_181828.3:c.*2221_*2225del	NP_861966.1:n.*2221_*2225del
NM_181829.3:c.*2221_*2225del	NP_861967.1:n.*2221_*2225del
NM_181830.3:c.*2221_*2225del	NP_861968.1:n.*2221_*2225del
NM_181832.3:c.*2236_*2240del	NP_861970.1:n.*2236_*2240del
NR_156186.2:n.4431_4435del
NM_181833.3:c.*2161_*2165del	NP_861971.1:n.*2161_*2165del