Canonical Allele Identifier: CA2656032930

Gene: NF2

Linked Data

• gnomAD v4: 22-29694853-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694854del , CM000684.2:g.29694854del	GRCh38
NC_000022.10:g.30090843del , CM000684.1:g.30090843del	GRCh37
NC_000022.9:g.28420843del	NCBI36
NG_009057.1:g.96299del , LRG_511:g.96299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*52del	ENSP00000354529.6:n.*52del
ENST00000673312.2:c.*1334del	ENSP00000500186.2:n.*1334del
ENST00000338641.10:c.*52del MANE Select	ENSP00000344666.5:n.*52del
ENST00000361166.9:c.1258del	ENSP00000354529.5:n.1258del
ENST00000672461.1:c.*112del	ENSP00000500919.1:n.*112del
ENST00000672805.1:c.*1722del	ENSP00000500295.1:n.*1722del
ENST00000672896.1:c.*112del	ENSP00000500117.1:n.*112del
ENST00000673312.1:c.1859del	ENSP00000500186.1:n.1859del
ENST00000338641.8:c.*52del	ENSP00000344666.4:n.*52del
ENST00000361452.8:c.*112del	ENSP00000354897.4:n.*112del
ENST00000413209.6:c.*52del	ENSP00000409921.2:n.*52del
ENST00000432151.5:c.*196del	ENSP00000395885.1:n.*196del
NM_000268.3:c.*52del , LRG_511t1:c.*52del	NP_000259.1:n.*52del
NM_016418.5:c.*112del , LRG_511t2:c.*112del	NP_057502.2:n.*112del
NM_181828.2:c.*112del	NP_861966.1:n.*112del
NM_181829.2:c.*112del	NP_861967.1:n.*112del
NM_181830.2:c.*112del	NP_861968.1:n.*112del
NM_181832.2:c.*127del	NP_861970.1:n.*127del
NM_181833.2:c.*52del	NP_861971.1:n.*52del
NR_156186.1:n.2399del
XM_017028809.2:c.*52del	XP_016884298.1:n.*52del
XM_017028810.1:c.*112del	XP_016884299.1:n.*112del
NM_000268.4:c.*52del MANE Select	NP_000259.1:n.*52del
NM_181828.3:c.*112del	NP_861966.1:n.*112del
NM_181829.3:c.*112del	NP_861967.1:n.*112del
NM_181830.3:c.*112del	NP_861968.1:n.*112del
NM_181832.3:c.*127del	NP_861970.1:n.*127del
NR_156186.2:n.2322del
NM_181833.3:c.*52del	NP_861971.1:n.*52del