Canonical Allele Identifier: CA2656033383

Gene: NF2

Linked Data

• gnomAD v4: 22-29695177-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695178del , CM000684.2:g.29695178del	GRCh38
NC_000022.10:g.30091167del , CM000684.1:g.30091167del	GRCh37
NC_000022.9:g.28421167del	NCBI36
NG_009057.1:g.96623del , LRG_511:g.96623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*376del MANE Select	ENSP00000344666.5:n.*376del
ENST00000672461.1:c.*436del	ENSP00000500919.1:n.*436del
ENST00000672896.1:c.*436del	ENSP00000500117.1:n.*436del
ENST00000338641.8:c.*376del	ENSP00000344666.4:n.*376del
ENST00000361452.8:c.*436del	ENSP00000354897.4:n.*436del
ENST00000413209.6:c.*376del	ENSP00000409921.2:n.*376del
NM_000268.3:c.*376del , LRG_511t1:c.*376del	NP_000259.1:n.*376del
NM_016418.5:c.*436del , LRG_511t2:c.*436del	NP_057502.2:n.*436del
NM_181828.2:c.*436del	NP_861966.1:n.*436del
NM_181829.2:c.*436del	NP_861967.1:n.*436del
NM_181830.2:c.*436del	NP_861968.1:n.*436del
NM_181832.2:c.*451del	NP_861970.1:n.*451del
NM_181833.2:c.*376del	NP_861971.1:n.*376del
NR_156186.1:n.2723del
XM_017028810.1:c.*436del	XP_016884299.1:n.*436del
NM_000268.4:c.*376del MANE Select	NP_000259.1:n.*376del
NM_181828.3:c.*436del	NP_861966.1:n.*436del
NM_181829.3:c.*436del	NP_861967.1:n.*436del
NM_181830.3:c.*436del	NP_861968.1:n.*436del
NM_181832.3:c.*451del	NP_861970.1:n.*451del
NR_156186.2:n.2646del
NM_181833.3:c.*376del	NP_861971.1:n.*376del