Canonical Allele Identifier: CA638997309

Gene: NF2

Linked Data

• gnomAD v2: 22-30092051-C-CTTTTTTTTTTTTTTTTTTT
• MyVariant Identifiers: chr22:g.30092051_30092052insTTTTTTTTTTTTTTTTTTT (hg19) ; chr22:g.29696062_29696063insTTTTTTTTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696065_29696066insTTTTTTTTTTTTTTTTTTT , CM000684.2:g.29696065_29696066insTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000022.10:g.30092054_30092055insTTTTTTTTTTTTTTTTTTT , CM000684.1:g.30092054_30092055insTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000022.9:g.28422054_28422055insTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009057.1:g.97510_97511insTTTTTTTTTTTTTTTTTTT , LRG_511:g.97510_97511insTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000344666.5:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
ENST00000672461.1:c.*501+822_*501+823insTTTTTTTTTTTTTTTTTTT	ENSP00000500919.1:n.*501+822_*501+823insTTTTTTTTTTTTTTTTTTT
ENST00000672896.1:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	ENSP00000500117.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
ENST00000338641.8:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT	ENSP00000344666.4:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
ENST00000361452.8:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	ENSP00000354897.4:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
ENST00000413209.6:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT	ENSP00000409921.2:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
NM_000268.3:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT , LRG_511t1:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT	NP_000259.1:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
NM_016418.5:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT , LRG_511t2:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_057502.2:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181828.2:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861966.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181829.2:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861967.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181830.2:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861968.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181832.2:c.*1338_*1339insTTTTTTTTTTTTTTTTTTT	NP_861970.1:n.*1338_*1339insTTTTTTTTTTTTTTTTTTT
NM_181833.2:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT	NP_861971.1:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
NR_156186.1:n.3610_3611insTTTTTTTTTTTTTTTTTTT
XM_017028810.1:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	XP_016884299.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_000268.4:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT MANE Select	NP_000259.1:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT
NM_181828.3:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861966.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181829.3:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861967.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181830.3:c.*1323_*1324insTTTTTTTTTTTTTTTTTTT	NP_861968.1:n.*1323_*1324insTTTTTTTTTTTTTTTTTTT
NM_181832.3:c.*1338_*1339insTTTTTTTTTTTTTTTTTTT	NP_861970.1:n.*1338_*1339insTTTTTTTTTTTTTTTTTTT
NR_156186.2:n.3533_3534insTTTTTTTTTTTTTTTTTTT
NM_181833.3:c.*1263_*1264insTTTTTTTTTTTTTTTTTTT	NP_861971.1:n.*1263_*1264insTTTTTTTTTTTTTTTTTTT