Canonical Allele Identifier: CA2656033735

Gene: NF2

Linked Data

• gnomAD v4: 22-29695371-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695375del , CM000684.2:g.29695375del	GRCh38
NC_000022.10:g.30091364del , CM000684.1:g.30091364del	GRCh37
NC_000022.9:g.28421364del	NCBI36
NG_009057.1:g.96820del , LRG_511:g.96820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*573del MANE Select	ENSP00000344666.5:n.*573del
ENST00000672461.1:c.*501+132del	ENSP00000500919.1:n.*501+132del
ENST00000672896.1:c.*633del	ENSP00000500117.1:n.*633del
ENST00000338641.8:c.*573del	ENSP00000344666.4:n.*573del
ENST00000361452.8:c.*633del	ENSP00000354897.4:n.*633del
ENST00000413209.6:c.*573del	ENSP00000409921.2:n.*573del
NM_000268.3:c.*573del , LRG_511t1:c.*573del	NP_000259.1:n.*573del
NM_016418.5:c.*633del , LRG_511t2:c.*633del	NP_057502.2:n.*633del
NM_181828.2:c.*633del	NP_861966.1:n.*633del
NM_181829.2:c.*633del	NP_861967.1:n.*633del
NM_181830.2:c.*633del	NP_861968.1:n.*633del
NM_181832.2:c.*648del	NP_861970.1:n.*648del
NM_181833.2:c.*573del	NP_861971.1:n.*573del
NR_156186.1:n.2920del
XM_017028810.1:c.*633del	XP_016884299.1:n.*633del
NM_000268.4:c.*573del MANE Select	NP_000259.1:n.*573del
NM_181828.3:c.*633del	NP_861966.1:n.*633del
NM_181829.3:c.*633del	NP_861967.1:n.*633del
NM_181830.3:c.*633del	NP_861968.1:n.*633del
NM_181832.3:c.*648del	NP_861970.1:n.*648del
NR_156186.2:n.2843del
NM_181833.3:c.*573del	NP_861971.1:n.*573del