Canonical Allele Identifier: CA2656033161

Gene: NF2

Linked Data

• gnomAD v4: 22-29694993-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694996del , CM000684.2:g.29694996del	GRCh38
NC_000022.10:g.30090985del , CM000684.1:g.30090985del	GRCh37
NC_000022.9:g.28420985del	NCBI36
NG_009057.1:g.96441del , LRG_511:g.96441del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.*194del	ENSP00000354529.6:n.*194del
ENST00000673312.2:c.*1476del	ENSP00000500186.2:n.*1476del
ENST00000338641.10:c.*194del MANE Select	ENSP00000344666.5:n.*194del
ENST00000361166.9:c.1400del	ENSP00000354529.5:n.1400del
ENST00000672461.1:c.*254del	ENSP00000500919.1:n.*254del
ENST00000672896.1:c.*254del	ENSP00000500117.1:n.*254del
ENST00000673312.1:c.2001del	ENSP00000500186.1:n.2001del
ENST00000338641.8:c.*194del	ENSP00000344666.4:n.*194del
ENST00000361452.8:c.*254del	ENSP00000354897.4:n.*254del
ENST00000413209.6:c.*194del	ENSP00000409921.2:n.*194del
NM_000268.3:c.*194del , LRG_511t1:c.*194del	NP_000259.1:n.*194del
NM_016418.5:c.*254del , LRG_511t2:c.*254del	NP_057502.2:n.*254del
NM_181828.2:c.*254del	NP_861966.1:n.*254del
NM_181829.2:c.*254del	NP_861967.1:n.*254del
NM_181830.2:c.*254del	NP_861968.1:n.*254del
NM_181832.2:c.*269del	NP_861970.1:n.*269del
NM_181833.2:c.*194del	NP_861971.1:n.*194del
NR_156186.1:n.2541del
XM_017028809.2:c.*194del	XP_016884298.1:n.*194del
XM_017028810.1:c.*254del	XP_016884299.1:n.*254del
NM_000268.4:c.*194del MANE Select	NP_000259.1:n.*194del
NM_181828.3:c.*254del	NP_861966.1:n.*254del
NM_181829.3:c.*254del	NP_861967.1:n.*254del
NM_181830.3:c.*254del	NP_861968.1:n.*254del
NM_181832.3:c.*269del	NP_861970.1:n.*269del
NR_156186.2:n.2464del
NM_181833.3:c.*194del	NP_861971.1:n.*194del