Canonical Allele Identifier: CA2400693251

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696836_29696843delinsAGATGGAG , CM000684.2:g.29696836_29696843delinsAGATGGAG	GRCh38
NC_000022.10:g.30092825_30092832delinsAGATGGAG , CM000684.1:g.30092825_30092832delinsAGATGGAG	GRCh37
NC_000022.9:g.28422825_28422832delinsAGATGGAG	NCBI36
NG_009057.1:g.98281_98288delinsAGATGGAG , LRG_511:g.98281_98288delinsAGATGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2034_*2041delinsAGATGGAG MANE Select	ENSP00000344666.5:n.*2034_*2041delinsAGATGGAG
ENST00000672461.1:c.*502-425_*502-418delinsAGATGGAG	ENSP00000500919.1:n.*502-425_*502-418delinsAGATGGAG
ENST00000672896.1:c.*2094_*2101delinsAGATGGAG	ENSP00000500117.1:n.*2094_*2101delinsAGATGGAG
ENST00000338641.8:c.*2034_*2041delinsAGATGGAG	ENSP00000344666.4:n.*2034_*2041delinsAGATGGAG
ENST00000361452.8:c.*2094_*2101delinsAGATGGAG	ENSP00000354897.4:n.*2094_*2101delinsAGATGGAG
ENST00000413209.6:c.*2034_*2041delinsAGATGGAG	ENSP00000409921.2:n.*2034_*2041delinsAGATGGAG
NM_000268.3:c.*2034_*2041delinsAGATGGAG , LRG_511t1:c.*2034_*2041delinsAGATGGAG	NP_000259.1:n.*2034_*2041delinsAGATGGAG
NM_016418.5:c.*2094_*2101delinsAGATGGAG , LRG_511t2:c.*2094_*2101delinsAGATGGAG	NP_057502.2:n.*2094_*2101delinsAGATGGAG
NM_181828.2:c.*2094_*2101delinsAGATGGAG	NP_861966.1:n.*2094_*2101delinsAGATGGAG
NM_181829.2:c.*2094_*2101delinsAGATGGAG	NP_861967.1:n.*2094_*2101delinsAGATGGAG
NM_181830.2:c.*2094_*2101delinsAGATGGAG	NP_861968.1:n.*2094_*2101delinsAGATGGAG
NM_181832.2:c.*2109_*2116delinsAGATGGAG	NP_861970.1:n.*2109_*2116delinsAGATGGAG
NM_181833.2:c.*2034_*2041delinsAGATGGAG	NP_861971.1:n.*2034_*2041delinsAGATGGAG
NR_156186.1:n.4381_4388delinsAGATGGAG
XM_017028810.1:c.*2094_*2101delinsAGATGGAG	XP_016884299.1:n.*2094_*2101delinsAGATGGAG
NM_000268.4:c.*2034_*2041delinsAGATGGAG MANE Select	NP_000259.1:n.*2034_*2041delinsAGATGGAG
NM_181828.3:c.*2094_*2101delinsAGATGGAG	NP_861966.1:n.*2094_*2101delinsAGATGGAG
NM_181829.3:c.*2094_*2101delinsAGATGGAG	NP_861967.1:n.*2094_*2101delinsAGATGGAG
NM_181830.3:c.*2094_*2101delinsAGATGGAG	NP_861968.1:n.*2094_*2101delinsAGATGGAG
NM_181832.3:c.*2109_*2116delinsAGATGGAG	NP_861970.1:n.*2109_*2116delinsAGATGGAG
NR_156186.2:n.4304_4311delinsAGATGGAG
NM_181833.3:c.*2034_*2041delinsAGATGGAG	NP_861971.1:n.*2034_*2041delinsAGATGGAG