Canonical Allele Identifier: CA2400692915

Gene: NF2

Linked Data

• dbSNP Id: rs2067544092

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696080_29696081insC , CM000684.2:g.29696080_29696081insC	GRCh38
NC_000022.10:g.30092069_30092070insC , CM000684.1:g.30092069_30092070insC	GRCh37
NC_000022.9:g.28422069_28422070insC	NCBI36
NG_009057.1:g.97525_97526insC , LRG_511:g.97525_97526insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1278_*1279insC MANE Select	ENSP00000344666.5:n.*1278_*1279insC
ENST00000672461.1:c.*501+837_*501+838insC	ENSP00000500919.1:n.*501+837_*501+838insC
ENST00000672896.1:c.*1338_*1339insC	ENSP00000500117.1:n.*1338_*1339insC
ENST00000338641.8:c.*1278_*1279insC	ENSP00000344666.4:n.*1278_*1279insC
ENST00000361452.8:c.*1338_*1339insC	ENSP00000354897.4:n.*1338_*1339insC
ENST00000413209.6:c.*1278_*1279insC	ENSP00000409921.2:n.*1278_*1279insC
NM_000268.3:c.*1278_*1279insC , LRG_511t1:c.*1278_*1279insC	NP_000259.1:n.*1278_*1279insC
NM_016418.5:c.*1338_*1339insC , LRG_511t2:c.*1338_*1339insC	NP_057502.2:n.*1338_*1339insC
NM_181828.2:c.*1338_*1339insC	NP_861966.1:n.*1338_*1339insC
NM_181829.2:c.*1338_*1339insC	NP_861967.1:n.*1338_*1339insC
NM_181830.2:c.*1338_*1339insC	NP_861968.1:n.*1338_*1339insC
NM_181832.2:c.*1353_*1354insC	NP_861970.1:n.*1353_*1354insC
NM_181833.2:c.*1278_*1279insC	NP_861971.1:n.*1278_*1279insC
NR_156186.1:n.3625_3626insC
XM_017028810.1:c.*1338_*1339insC	XP_016884299.1:n.*1338_*1339insC
NM_000268.4:c.*1278_*1279insC MANE Select	NP_000259.1:n.*1278_*1279insC
NM_181828.3:c.*1338_*1339insC	NP_861966.1:n.*1338_*1339insC
NM_181829.3:c.*1338_*1339insC	NP_861967.1:n.*1338_*1339insC
NM_181830.3:c.*1338_*1339insC	NP_861968.1:n.*1338_*1339insC
NM_181832.3:c.*1353_*1354insC	NP_861970.1:n.*1353_*1354insC
NR_156186.2:n.3548_3549insC
NM_181833.3:c.*1278_*1279insC	NP_861971.1:n.*1278_*1279insC