Canonical Allele Identifier: CA2656035231

Gene: NF2

Linked Data

• gnomAD v4: 22-29696173-A-AAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696175_29696177dup , CM000684.2:g.29696175_29696177dup	GRCh38
NC_000022.10:g.30092164_30092166dup , CM000684.1:g.30092164_30092166dup	GRCh37
NC_000022.9:g.28422164_28422166dup	NCBI36
NG_009057.1:g.97620_97622dup , LRG_511:g.97620_97622dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1373_*1375dup MANE Select	ENSP00000344666.5:n.*1373_*1375dup
ENST00000672461.1:c.*501+932_*501+934dup	ENSP00000500919.1:n.*501+932_*501+934dup
ENST00000672896.1:c.*1433_*1435dup	ENSP00000500117.1:n.*1433_*1435dup
ENST00000338641.8:c.*1373_*1375dup	ENSP00000344666.4:n.*1373_*1375dup
ENST00000361452.8:c.*1433_*1435dup	ENSP00000354897.4:n.*1433_*1435dup
ENST00000413209.6:c.*1373_*1375dup	ENSP00000409921.2:n.*1373_*1375dup
NM_000268.3:c.*1373_*1375dup , LRG_511t1:c.*1373_*1375dup	NP_000259.1:n.*1373_*1375dup
NM_016418.5:c.*1433_*1435dup , LRG_511t2:c.*1433_*1435dup	NP_057502.2:n.*1433_*1435dup
NM_181828.2:c.*1433_*1435dup	NP_861966.1:n.*1433_*1435dup
NM_181829.2:c.*1433_*1435dup	NP_861967.1:n.*1433_*1435dup
NM_181830.2:c.*1433_*1435dup	NP_861968.1:n.*1433_*1435dup
NM_181832.2:c.*1448_*1450dup	NP_861970.1:n.*1448_*1450dup
NM_181833.2:c.*1373_*1375dup	NP_861971.1:n.*1373_*1375dup
NR_156186.1:n.3720_3722dup
XM_017028810.1:c.*1433_*1435dup	XP_016884299.1:n.*1433_*1435dup
NM_000268.4:c.*1373_*1375dup MANE Select	NP_000259.1:n.*1373_*1375dup
NM_181828.3:c.*1433_*1435dup	NP_861966.1:n.*1433_*1435dup
NM_181829.3:c.*1433_*1435dup	NP_861967.1:n.*1433_*1435dup
NM_181830.3:c.*1433_*1435dup	NP_861968.1:n.*1433_*1435dup
NM_181832.3:c.*1448_*1450dup	NP_861970.1:n.*1448_*1450dup
NR_156186.2:n.3643_3645dup
NM_181833.3:c.*1373_*1375dup	NP_861971.1:n.*1373_*1375dup