Canonical Allele Identifier: CA2656035124

Gene: NF2

Linked Data

• gnomAD v4: 22-29696070-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696071_29696072insCT , CM000684.2:g.29696071_29696072insCT	GRCh38
NC_000022.10:g.30092060_30092061insCT , CM000684.1:g.30092060_30092061insCT	GRCh37
NC_000022.9:g.28422060_28422061insCT	NCBI36
NG_009057.1:g.97516_97517insCT , LRG_511:g.97516_97517insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1269_*1270insCT MANE Select	ENSP00000344666.5:n.*1269_*1270insCT
ENST00000672461.1:c.*501+828_*501+829insCT	ENSP00000500919.1:n.*501+828_*501+829insCT
ENST00000672896.1:c.*1329_*1330insCT	ENSP00000500117.1:n.*1329_*1330insCT
ENST00000338641.8:c.*1269_*1270insCT	ENSP00000344666.4:n.*1269_*1270insCT
ENST00000361452.8:c.*1329_*1330insCT	ENSP00000354897.4:n.*1329_*1330insCT
ENST00000413209.6:c.*1269_*1270insCT	ENSP00000409921.2:n.*1269_*1270insCT
NM_000268.3:c.*1269_*1270insCT , LRG_511t1:c.*1269_*1270insCT	NP_000259.1:n.*1269_*1270insCT
NM_016418.5:c.*1329_*1330insCT , LRG_511t2:c.*1329_*1330insCT	NP_057502.2:n.*1329_*1330insCT
NM_181828.2:c.*1329_*1330insCT	NP_861966.1:n.*1329_*1330insCT
NM_181829.2:c.*1329_*1330insCT	NP_861967.1:n.*1329_*1330insCT
NM_181830.2:c.*1329_*1330insCT	NP_861968.1:n.*1329_*1330insCT
NM_181832.2:c.*1344_*1345insCT	NP_861970.1:n.*1344_*1345insCT
NM_181833.2:c.*1269_*1270insCT	NP_861971.1:n.*1269_*1270insCT
NR_156186.1:n.3616_3617insCT
XM_017028810.1:c.*1329_*1330insCT	XP_016884299.1:n.*1329_*1330insCT
NM_000268.4:c.*1269_*1270insCT MANE Select	NP_000259.1:n.*1269_*1270insCT
NM_181828.3:c.*1329_*1330insCT	NP_861966.1:n.*1329_*1330insCT
NM_181829.3:c.*1329_*1330insCT	NP_861967.1:n.*1329_*1330insCT
NM_181830.3:c.*1329_*1330insCT	NP_861968.1:n.*1329_*1330insCT
NM_181832.3:c.*1344_*1345insCT	NP_861970.1:n.*1344_*1345insCT
NR_156186.2:n.3539_3540insCT
NM_181833.3:c.*1269_*1270insCT	NP_861971.1:n.*1269_*1270insCT