Canonical Allele Identifier: CA2656033612

Gene: NF2

Linked Data

• gnomAD v4: 22-29695311-C-CTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695314_29695316dup , CM000684.2:g.29695314_29695316dup	GRCh38
NC_000022.10:g.30091303_30091305dup , CM000684.1:g.30091303_30091305dup	GRCh37
NC_000022.9:g.28421303_28421305dup	NCBI36
NG_009057.1:g.96759_96761dup , LRG_511:g.96759_96761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*512_*514dup MANE Select	ENSP00000344666.5:n.*512_*514dup
ENST00000672461.1:c.*501+71_*501+73dup	ENSP00000500919.1:n.*501+71_*501+73dup
ENST00000672896.1:c.*572_*574dup	ENSP00000500117.1:n.*572_*574dup
ENST00000338641.8:c.*512_*514dup	ENSP00000344666.4:n.*512_*514dup
ENST00000361452.8:c.*572_*574dup	ENSP00000354897.4:n.*572_*574dup
ENST00000413209.6:c.*512_*514dup	ENSP00000409921.2:n.*512_*514dup
NM_000268.3:c.*512_*514dup , LRG_511t1:c.*512_*514dup	NP_000259.1:n.*512_*514dup
NM_016418.5:c.*572_*574dup , LRG_511t2:c.*572_*574dup	NP_057502.2:n.*572_*574dup
NM_181828.2:c.*572_*574dup	NP_861966.1:n.*572_*574dup
NM_181829.2:c.*572_*574dup	NP_861967.1:n.*572_*574dup
NM_181830.2:c.*572_*574dup	NP_861968.1:n.*572_*574dup
NM_181832.2:c.*587_*589dup	NP_861970.1:n.*587_*589dup
NM_181833.2:c.*512_*514dup	NP_861971.1:n.*512_*514dup
NR_156186.1:n.2859_2861dup
XM_017028810.1:c.*572_*574dup	XP_016884299.1:n.*572_*574dup
NM_000268.4:c.*512_*514dup MANE Select	NP_000259.1:n.*512_*514dup
NM_181828.3:c.*572_*574dup	NP_861966.1:n.*572_*574dup
NM_181829.3:c.*572_*574dup	NP_861967.1:n.*572_*574dup
NM_181830.3:c.*572_*574dup	NP_861968.1:n.*572_*574dup
NM_181832.3:c.*587_*589dup	NP_861970.1:n.*587_*589dup
NR_156186.2:n.2782_2784dup
NM_181833.3:c.*512_*514dup	NP_861971.1:n.*512_*514dup