Canonical Allele Identifier: CA913187475

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668445del , CM000684.2:g.29668445del	GRCh38
NC_000022.10:g.30064434del , CM000684.1:g.30064434del	GRCh37
NC_000022.9:g.28394434del	NCBI36
NG_009057.1:g.69890del , LRG_511:g.69890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.863del	ENSP00000354529.6:p.Gln288ArgfsTer13
ENST00000673312.2:c.*492del	ENSP00000500186.2:n.*492del
ENST00000338641.10:c.998del MANE Select	ENSP00000344666.5:p.Gln333ArgfsTer13
ENST00000361166.9:c.416del	ENSP00000354529.5:p.Gln139ArgfsTer13
ENST00000672461.1:c.998del	ENSP00000500919.1:p.Gln333ArgfsTer13
ENST00000672805.1:c.*880del	ENSP00000500295.1:n.*880del
ENST00000672896.1:c.998del	ENSP00000500117.1:p.Gln333ArgfsTer13
ENST00000673312.1:c.1017del	ENSP00000500186.1:n.1017del
ENST00000334961.11:c.749del	ENSP00000335652.7:p.Gln250ArgfsTer13
ENST00000338641.8:c.998del	ENSP00000344666.4:p.Gln333ArgfsTer13
ENST00000353887.8:c.749del	ENSP00000340626.4:p.Gln250ArgfsTer13
ENST00000361166.8:c.998del	ENSP00000354529.4:p.Gln333ArgfsTer13
ENST00000361452.8:c.875del	ENSP00000354897.4:p.Gln292ArgfsTer13
ENST00000361676.8:c.872del	ENSP00000355183.4:p.Gln291ArgfsTer13
ENST00000397789.3:c.998del	ENSP00000380891.3:p.Gln333ArgfsTer13
ENST00000403435.5:c.998del	ENSP00000384029.1:p.Gln333ArgfsTer2
ENST00000403999.7:c.998del	ENSP00000384797.3:p.Gln333ArgfsTer13
ENST00000413209.6:c.447+26160del	ENSP00000409921.2:n.447+26160del
ENST00000432151.5:c.521del	ENSP00000395885.1:p.Gln174ArgfsTer?
NM_000268.3:c.998del , LRG_511t1:c.998del	NP_000259.1:p.Gln333ArgfsTer13
NM_016418.5:c.998del , LRG_511t2:c.998del	NP_057502.2:p.Gln333ArgfsTer13
NM_181825.2:c.998del	NP_861546.1:p.Gln333ArgfsTer13
NM_181828.2:c.872del	NP_861966.1:p.Gln291ArgfsTer13
NM_181829.2:c.875del	NP_861967.1:p.Gln292ArgfsTer13
NM_181830.2:c.749del	NP_861968.1:p.Gln250ArgfsTer13
NM_181831.2:c.749del	NP_861969.1:p.Gln250ArgfsTer13
NM_181832.2:c.998del	NP_861970.1:p.Gln333ArgfsTer13
NM_181833.2:c.447+26160del	NP_861971.1:n.447+26160del
NR_156186.1:n.1557del
XM_017028809.2:c.884del	XP_016884298.1:p.Gln295ArgfsTer13
XM_017028810.1:c.884del	XP_016884299.1:p.Gln295ArgfsTer13
NM_000268.4:c.998del MANE Select	NP_000259.1:p.Gln333ArgfsTer13
NM_181825.3:c.998del	NP_861546.1:p.Gln333ArgfsTer13
NM_181828.3:c.872del	NP_861966.1:p.Gln291ArgfsTer13
NM_181829.3:c.875del	NP_861967.1:p.Gln292ArgfsTer13
NM_181830.3:c.749del	NP_861968.1:p.Gln250ArgfsTer13
NM_181831.3:c.749del	NP_861969.1:p.Gln250ArgfsTer13
NM_181832.3:c.998del	NP_861970.1:p.Gln333ArgfsTer13
NR_156186.2:n.1480del
NM_181833.3:c.447+26160del	NP_861971.1:n.447+26160del