Canonical Allele Identifier: CA2818694978

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696070_29696071insCT , CM000684.2:g.29696070_29696071insCT	GRCh38
NC_000022.10:g.30092059_30092060insCT , CM000684.1:g.30092059_30092060insCT	GRCh37
NC_000022.9:g.28422059_28422060insCT	NCBI36
NG_009057.1:g.97515_97516insCT , LRG_511:g.97515_97516insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1268_*1269insCT MANE Select	ENSP00000344666.5:n.*1268_*1269insCT
ENST00000672461.1:c.*501+827_*501+828insCT	ENSP00000500919.1:n.*501+827_*501+828insCT
ENST00000672896.1:c.*1328_*1329insCT	ENSP00000500117.1:n.*1328_*1329insCT
ENST00000338641.8:c.*1268_*1269insCT	ENSP00000344666.4:n.*1268_*1269insCT
ENST00000361452.8:c.*1328_*1329insCT	ENSP00000354897.4:n.*1328_*1329insCT
ENST00000413209.6:c.*1268_*1269insCT	ENSP00000409921.2:n.*1268_*1269insCT
NM_000268.3:c.*1268_*1269insCT , LRG_511t1:c.*1268_*1269insCT	NP_000259.1:n.*1268_*1269insCT
NM_016418.5:c.*1328_*1329insCT , LRG_511t2:c.*1328_*1329insCT	NP_057502.2:n.*1328_*1329insCT
NM_181828.2:c.*1328_*1329insCT	NP_861966.1:n.*1328_*1329insCT
NM_181829.2:c.*1328_*1329insCT	NP_861967.1:n.*1328_*1329insCT
NM_181830.2:c.*1328_*1329insCT	NP_861968.1:n.*1328_*1329insCT
NM_181832.2:c.*1343_*1344insCT	NP_861970.1:n.*1343_*1344insCT
NM_181833.2:c.*1268_*1269insCT	NP_861971.1:n.*1268_*1269insCT
NR_156186.1:n.3615_3616insCT
XM_017028810.1:c.*1328_*1329insCT	XP_016884299.1:n.*1328_*1329insCT
NM_000268.4:c.*1268_*1269insCT MANE Select	NP_000259.1:n.*1268_*1269insCT
NM_181828.3:c.*1328_*1329insCT	NP_861966.1:n.*1328_*1329insCT
NM_181829.3:c.*1328_*1329insCT	NP_861967.1:n.*1328_*1329insCT
NM_181830.3:c.*1328_*1329insCT	NP_861968.1:n.*1328_*1329insCT
NM_181832.3:c.*1343_*1344insCT	NP_861970.1:n.*1343_*1344insCT
NR_156186.2:n.3538_3539insCT
NM_181833.3:c.*1268_*1269insCT	NP_861971.1:n.*1268_*1269insCT