Canonical Allele Identifier: CA323128925

Gene: NF2

Linked Data

• dbSNP Id: rs898664956
• gnomAD v3: 22-29696070-T-TC
• gnomAD v4: 22-29696070-T-TC
• MyVariant Identifiers: chr22:g.30092059_30092060insC (hg19) ; chr22:g.29696070_29696071insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696070_29696071insC , CM000684.2:g.29696070_29696071insC	GRCh38
NC_000022.10:g.30092059_30092060insC , CM000684.1:g.30092059_30092060insC	GRCh37
NC_000022.9:g.28422059_28422060insC	NCBI36
NG_009057.1:g.97515_97516insC , LRG_511:g.97515_97516insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1268_*1269insC MANE Select	ENSP00000344666.5:n.*1268_*1269insC
ENST00000672461.1:c.*501+827_*501+828insC	ENSP00000500919.1:n.*501+827_*501+828insC
ENST00000672896.1:c.*1328_*1329insC	ENSP00000500117.1:n.*1328_*1329insC
ENST00000338641.8:c.*1268_*1269insC	ENSP00000344666.4:n.*1268_*1269insC
ENST00000361452.8:c.*1328_*1329insC	ENSP00000354897.4:n.*1328_*1329insC
ENST00000413209.6:c.*1268_*1269insC	ENSP00000409921.2:n.*1268_*1269insC
NM_000268.3:c.*1268_*1269insC , LRG_511t1:c.*1268_*1269insC	NP_000259.1:n.*1268_*1269insC
NM_016418.5:c.*1328_*1329insC , LRG_511t2:c.*1328_*1329insC	NP_057502.2:n.*1328_*1329insC
NM_181828.2:c.*1328_*1329insC	NP_861966.1:n.*1328_*1329insC
NM_181829.2:c.*1328_*1329insC	NP_861967.1:n.*1328_*1329insC
NM_181830.2:c.*1328_*1329insC	NP_861968.1:n.*1328_*1329insC
NM_181832.2:c.*1343_*1344insC	NP_861970.1:n.*1343_*1344insC
NM_181833.2:c.*1268_*1269insC	NP_861971.1:n.*1268_*1269insC
NR_156186.1:n.3615_3616insC
XM_017028810.1:c.*1328_*1329insC	XP_016884299.1:n.*1328_*1329insC
NM_000268.4:c.*1268_*1269insC MANE Select	NP_000259.1:n.*1268_*1269insC
NM_181828.3:c.*1328_*1329insC	NP_861966.1:n.*1328_*1329insC
NM_181829.3:c.*1328_*1329insC	NP_861967.1:n.*1328_*1329insC
NM_181830.3:c.*1328_*1329insC	NP_861968.1:n.*1328_*1329insC
NM_181832.3:c.*1343_*1344insC	NP_861970.1:n.*1343_*1344insC
NR_156186.2:n.3538_3539insC
NM_181833.3:c.*1268_*1269insC	NP_861971.1:n.*1268_*1269insC