Canonical Allele Identifier: CA2656036170

Gene: NF2

Linked Data

• gnomAD v4: 22-29696985-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696985_29696986insC , CM000684.2:g.29696985_29696986insC	GRCh38
NC_000022.10:g.30092974_30092975insC , CM000684.1:g.30092974_30092975insC	GRCh37
NC_000022.9:g.28422974_28422975insC	NCBI36
NG_009057.1:g.98430_98431insC , LRG_511:g.98430_98431insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2183_*2184insC MANE Select	ENSP00000344666.5:n.*2183_*2184insC
ENST00000672461.1:c.*502-276_*502-275insC	ENSP00000500919.1:n.*502-276_*502-275insC...
ENST00000672896.1:c.*2243_*2244insC	ENSP00000500117.1:n.*2243_*2244insC
ENST00000338641.8:c.*2183_*2184insC	ENSP00000344666.4:n.*2183_*2184insC
ENST00000361452.8:c.*2243_*2244insC	ENSP00000354897.4:n.*2243_*2244insC
ENST00000413209.6:c.*2183_*2184insC	ENSP00000409921.2:n.*2183_*2184insC
NM_000268.3:c.*2183_*2184insC , LRG_511t1:c.*2183_*2184insC	NP_000259.1:n.*2183_*2184insC
NM_016418.5:c.*2243_*2244insC , LRG_511t2:c.*2243_*2244insC	NP_057502.2:n.*2243_*2244insC
NM_181828.2:c.*2243_*2244insC	NP_861966.1:n.*2243_*2244insC
NM_181829.2:c.*2243_*2244insC	NP_861967.1:n.*2243_*2244insC
NM_181830.2:c.*2243_*2244insC	NP_861968.1:n.*2243_*2244insC
NM_181832.2:c.*2258_*2259insC	NP_861970.1:n.*2258_*2259insC
NM_181833.2:c.*2183_*2184insC	NP_861971.1:n.*2183_*2184insC
NR_156186.1:n.4530_4531insC
XM_017028810.1:c.*2243_*2244insC	XP_016884299.1:n.*2243_*2244insC
NM_000268.4:c.*2183_*2184insC MANE Select	NP_000259.1:n.*2183_*2184insC
NM_181828.3:c.*2243_*2244insC	NP_861966.1:n.*2243_*2244insC
NM_181829.3:c.*2243_*2244insC	NP_861967.1:n.*2243_*2244insC
NM_181830.3:c.*2243_*2244insC	NP_861968.1:n.*2243_*2244insC
NM_181832.3:c.*2258_*2259insC	NP_861970.1:n.*2258_*2259insC
NR_156186.2:n.4453_4454insC
NM_181833.3:c.*2183_*2184insC	NP_861971.1:n.*2183_*2184insC