Canonical Allele Identifier: CA2400692967

Gene: NF2

Linked Data

• dbSNP Id: rs2067547614

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696141_29696153del , CM000684.2:g.29696141_29696153del	GRCh38
NC_000022.10:g.30092130_30092142del , CM000684.1:g.30092130_30092142del	GRCh37
NC_000022.9:g.28422130_28422142del	NCBI36
NG_009057.1:g.97586_97598del , LRG_511:g.97586_97598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*1339_*1351del MANE Select	ENSP00000344666.5:n.*1339_*1351del
ENST00000672461.1:c.*501+898_*501+910del	ENSP00000500919.1:n.*501+898_*501+910del
ENST00000672896.1:c.*1399_*1411del	ENSP00000500117.1:n.*1399_*1411del
ENST00000338641.8:c.*1339_*1351del	ENSP00000344666.4:n.*1339_*1351del
ENST00000361452.8:c.*1399_*1411del	ENSP00000354897.4:n.*1399_*1411del
ENST00000413209.6:c.*1339_*1351del	ENSP00000409921.2:n.*1339_*1351del
NM_000268.3:c.*1339_*1351del , LRG_511t1:c.*1339_*1351del	NP_000259.1:n.*1339_*1351del
NM_016418.5:c.*1399_*1411del , LRG_511t2:c.*1399_*1411del	NP_057502.2:n.*1399_*1411del
NM_181828.2:c.*1399_*1411del	NP_861966.1:n.*1399_*1411del
NM_181829.2:c.*1399_*1411del	NP_861967.1:n.*1399_*1411del
NM_181830.2:c.*1399_*1411del	NP_861968.1:n.*1399_*1411del
NM_181832.2:c.*1414_*1426del	NP_861970.1:n.*1414_*1426del
NM_181833.2:c.*1339_*1351del	NP_861971.1:n.*1339_*1351del
NR_156186.1:n.3686_3698del
XM_017028810.1:c.*1399_*1411del	XP_016884299.1:n.*1399_*1411del
NM_000268.4:c.*1339_*1351del MANE Select	NP_000259.1:n.*1339_*1351del
NM_181828.3:c.*1399_*1411del	NP_861966.1:n.*1399_*1411del
NM_181829.3:c.*1399_*1411del	NP_861967.1:n.*1399_*1411del
NM_181830.3:c.*1399_*1411del	NP_861968.1:n.*1399_*1411del
NM_181832.3:c.*1414_*1426del	NP_861970.1:n.*1414_*1426del
NR_156186.2:n.3609_3621del
NM_181833.3:c.*1339_*1351del	NP_861971.1:n.*1339_*1351del