Canonical Allele Identifier: CA2818695079

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696990_29696991insTTTAC , CM000684.2:g.29696990_29696991insTTTAC	GRCh38
NC_000022.10:g.30092979_30092980insTTTAC , CM000684.1:g.30092979_30092980insTTTAC	GRCh37
NC_000022.9:g.28422979_28422980insTTTAC	NCBI36
NG_009057.1:g.98435_98436insTTTAC , LRG_511:g.98435_98436insTTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2188_*2189insTTTAC MANE Select	ENSP00000344666.5:n.*2188_*2189insTTTAC
ENST00000672461.1:c.*502-271_*502-270insTTTAC	ENSP00000500919.1:n.*502-271_*502-270insTTTAC
ENST00000672896.1:c.*2248_*2249insTTTAC	ENSP00000500117.1:n.*2248_*2249insTTTAC
ENST00000338641.8:c.*2188_*2189insTTTAC	ENSP00000344666.4:n.*2188_*2189insTTTAC
ENST00000361452.8:c.*2248_*2249insTTTAC	ENSP00000354897.4:n.*2248_*2249insTTTAC
ENST00000413209.6:c.*2188_*2189insTTTAC	ENSP00000409921.2:n.*2188_*2189insTTTAC
NM_000268.3:c.*2188_*2189insTTTAC , LRG_511t1:c.*2188_*2189insTTTAC	NP_000259.1:n.*2188_*2189insTTTAC
NM_016418.5:c.*2248_*2249insTTTAC , LRG_511t2:c.*2248_*2249insTTTAC	NP_057502.2:n.*2248_*2249insTTTAC
NM_181828.2:c.*2248_*2249insTTTAC	NP_861966.1:n.*2248_*2249insTTTAC
NM_181829.2:c.*2248_*2249insTTTAC	NP_861967.1:n.*2248_*2249insTTTAC
NM_181830.2:c.*2248_*2249insTTTAC	NP_861968.1:n.*2248_*2249insTTTAC
NM_181832.2:c.*2263_*2264insTTTAC	NP_861970.1:n.*2263_*2264insTTTAC
NM_181833.2:c.*2188_*2189insTTTAC	NP_861971.1:n.*2188_*2189insTTTAC
NR_156186.1:n.4535_4536insTTTAC
XM_017028810.1:c.*2248_*2249insTTTAC	XP_016884299.1:n.*2248_*2249insTTTAC
NM_000268.4:c.*2188_*2189insTTTAC MANE Select	NP_000259.1:n.*2188_*2189insTTTAC
NM_181828.3:c.*2248_*2249insTTTAC	NP_861966.1:n.*2248_*2249insTTTAC
NM_181829.3:c.*2248_*2249insTTTAC	NP_861967.1:n.*2248_*2249insTTTAC
NM_181830.3:c.*2248_*2249insTTTAC	NP_861968.1:n.*2248_*2249insTTTAC
NM_181832.3:c.*2263_*2264insTTTAC	NP_861970.1:n.*2263_*2264insTTTAC
NR_156186.2:n.4458_4459insTTTAC
NM_181833.3:c.*2188_*2189insTTTAC	NP_861971.1:n.*2188_*2189insTTTAC