Canonical Allele Identifier: CA2656033562

Gene: NF2

Linked Data

• gnomAD v4: 22-29695281-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695283del , CM000684.2:g.29695283del	GRCh38
NC_000022.10:g.30091272del , CM000684.1:g.30091272del	GRCh37
NC_000022.9:g.28421272del	NCBI36
NG_009057.1:g.96728del , LRG_511:g.96728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*481del MANE Select	ENSP00000344666.5:n.*481del
ENST00000672461.1:c.*501+40del	ENSP00000500919.1:n.*501+40del
ENST00000672896.1:c.*541del	ENSP00000500117.1:n.*541del
ENST00000338641.8:c.*481del	ENSP00000344666.4:n.*481del
ENST00000361452.8:c.*541del	ENSP00000354897.4:n.*541del
ENST00000413209.6:c.*481del	ENSP00000409921.2:n.*481del
NM_000268.3:c.*481del , LRG_511t1:c.*481del	NP_000259.1:n.*481del
NM_016418.5:c.*541del , LRG_511t2:c.*541del	NP_057502.2:n.*541del
NM_181828.2:c.*541del	NP_861966.1:n.*541del
NM_181829.2:c.*541del	NP_861967.1:n.*541del
NM_181830.2:c.*541del	NP_861968.1:n.*541del
NM_181832.2:c.*556del	NP_861970.1:n.*556del
NM_181833.2:c.*481del	NP_861971.1:n.*481del
NR_156186.1:n.2828del
XM_017028810.1:c.*541del	XP_016884299.1:n.*541del
NM_000268.4:c.*481del MANE Select	NP_000259.1:n.*481del
NM_181828.3:c.*541del	NP_861966.1:n.*541del
NM_181829.3:c.*541del	NP_861967.1:n.*541del
NM_181830.3:c.*541del	NP_861968.1:n.*541del
NM_181832.3:c.*556del	NP_861970.1:n.*556del
NR_156186.2:n.2751del
NM_181833.3:c.*481del	NP_861971.1:n.*481del