Canonical Allele Identifier: CA2656036172

Gene: NF2

Linked Data

• gnomAD v4: 22-29696988-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696988_29696989insC , CM000684.2:g.29696988_29696989insC	GRCh38
NC_000022.10:g.30092977_30092978insC , CM000684.1:g.30092977_30092978insC	GRCh37
NC_000022.9:g.28422977_28422978insC	NCBI36
NG_009057.1:g.98433_98434insC , LRG_511:g.98433_98434insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2186_*2187insC MANE Select	ENSP00000344666.5:n.*2186_*2187insC
ENST00000672461.1:c.*502-273_*502-272insC	ENSP00000500919.1:n.*502-273_*502-272insC...
ENST00000672896.1:c.*2246_*2247insC	ENSP00000500117.1:n.*2246_*2247insC
ENST00000338641.8:c.*2186_*2187insC	ENSP00000344666.4:n.*2186_*2187insC
ENST00000361452.8:c.*2246_*2247insC	ENSP00000354897.4:n.*2246_*2247insC
ENST00000413209.6:c.*2186_*2187insC	ENSP00000409921.2:n.*2186_*2187insC
NM_000268.3:c.*2186_*2187insC , LRG_511t1:c.*2186_*2187insC	NP_000259.1:n.*2186_*2187insC
NM_016418.5:c.*2246_*2247insC , LRG_511t2:c.*2246_*2247insC	NP_057502.2:n.*2246_*2247insC
NM_181828.2:c.*2246_*2247insC	NP_861966.1:n.*2246_*2247insC
NM_181829.2:c.*2246_*2247insC	NP_861967.1:n.*2246_*2247insC
NM_181830.2:c.*2246_*2247insC	NP_861968.1:n.*2246_*2247insC
NM_181832.2:c.*2261_*2262insC	NP_861970.1:n.*2261_*2262insC
NM_181833.2:c.*2186_*2187insC	NP_861971.1:n.*2186_*2187insC
NR_156186.1:n.4533_4534insC
XM_017028810.1:c.*2246_*2247insC	XP_016884299.1:n.*2246_*2247insC
NM_000268.4:c.*2186_*2187insC MANE Select	NP_000259.1:n.*2186_*2187insC
NM_181828.3:c.*2246_*2247insC	NP_861966.1:n.*2246_*2247insC
NM_181829.3:c.*2246_*2247insC	NP_861967.1:n.*2246_*2247insC
NM_181830.3:c.*2246_*2247insC	NP_861968.1:n.*2246_*2247insC
NM_181832.3:c.*2261_*2262insC	NP_861970.1:n.*2261_*2262insC
NR_156186.2:n.4456_4457insC
NM_181833.3:c.*2186_*2187insC	NP_861971.1:n.*2186_*2187insC