Canonical Allele Identifier: CA1024926997

Gene: NF2

Linked Data

• dbSNP Id: rs2067524192
• gnomAD v3: 22-29695469-GC-G
• gnomAD v4: 22-29695469-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695471del , CM000684.2:g.29695471del	GRCh38
NC_000022.10:g.30091460del , CM000684.1:g.30091460del	GRCh37
NC_000022.9:g.28421460del	NCBI36
NG_009057.1:g.96916del , LRG_511:g.96916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*669del MANE Select	ENSP00000344666.5:n.*669del
ENST00000672461.1:c.*501+228del	ENSP00000500919.1:n.*501+228del
ENST00000672896.1:c.*729del	ENSP00000500117.1:n.*729del
ENST00000338641.8:c.*669del	ENSP00000344666.4:n.*669del
ENST00000361452.8:c.*729del	ENSP00000354897.4:n.*729del
ENST00000413209.6:c.*669del	ENSP00000409921.2:n.*669del
NM_000268.3:c.*669del , LRG_511t1:c.*669del	NP_000259.1:n.*669del
NM_016418.5:c.*729del , LRG_511t2:c.*729del	NP_057502.2:n.*729del
NM_181828.2:c.*729del	NP_861966.1:n.*729del
NM_181829.2:c.*729del	NP_861967.1:n.*729del
NM_181830.2:c.*729del	NP_861968.1:n.*729del
NM_181832.2:c.*744del	NP_861970.1:n.*744del
NM_181833.2:c.*669del	NP_861971.1:n.*669del
NR_156186.1:n.3016del
XM_017028810.1:c.*729del	XP_016884299.1:n.*729del
NM_000268.4:c.*669del MANE Select	NP_000259.1:n.*669del
NM_181828.3:c.*729del	NP_861966.1:n.*729del
NM_181829.3:c.*729del	NP_861967.1:n.*729del
NM_181830.3:c.*729del	NP_861968.1:n.*729del
NM_181832.3:c.*744del	NP_861970.1:n.*744del
NR_156186.2:n.2939del
NM_181833.3:c.*669del	NP_861971.1:n.*669del