Canonical Allele Identifier: CA2656033163

Gene: NF2

Linked Data

• dbSNP Id: rs2147173120
• gnomAD v4: 22-29694997-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694997C>A , CM000684.2:g.29694997C>A	GRCh38
NC_000022.10:g.30090986C>A , CM000684.1:g.30090986C>A	GRCh37
NC_000022.9:g.28420986C>A	NCBI36
NG_009057.1:g.96442C>A , LRG_511:g.96442C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.*195C>A	ENSP00000354529.6:n.*195C>A
ENST00000673312.2:c.*1477C>A	ENSP00000500186.2:n.*1477C>A
ENST00000338641.10:c.*195C>A MANE Select	ENSP00000344666.5:n.*195C>A
ENST00000361166.9:c.1401C>A	ENSP00000354529.5:n.1401C>A
ENST00000672461.1:c.*255C>A	ENSP00000500919.1:n.*255C>A
ENST00000672896.1:c.*255C>A	ENSP00000500117.1:n.*255C>A
ENST00000673312.1:c.2002C>A	ENSP00000500186.1:n.2002C>A
ENST00000338641.8:c.*195C>A	ENSP00000344666.4:n.*195C>A
ENST00000361452.8:c.*255C>A	ENSP00000354897.4:n.*255C>A
ENST00000413209.6:c.*195C>A	ENSP00000409921.2:n.*195C>A
NM_000268.3:c.*195C>A , LRG_511t1:c.*195C>A	NP_000259.1:n.*195C>A
NM_016418.5:c.*255C>A , LRG_511t2:c.*255C>A	NP_057502.2:n.*255C>A
NM_181828.2:c.*255C>A	NP_861966.1:n.*255C>A
NM_181829.2:c.*255C>A	NP_861967.1:n.*255C>A
NM_181830.2:c.*255C>A	NP_861968.1:n.*255C>A
NM_181832.2:c.*270C>A	NP_861970.1:n.*270C>A
NM_181833.2:c.*195C>A	NP_861971.1:n.*195C>A
NR_156186.1:n.2542C>A
XM_017028809.2:c.*195C>A	XP_016884298.1:n.*195C>A
XM_017028810.1:c.*255C>A	XP_016884299.1:n.*255C>A
NM_000268.4:c.*195C>A MANE Select	NP_000259.1:n.*195C>A
NM_181828.3:c.*255C>A	NP_861966.1:n.*255C>A
NM_181829.3:c.*255C>A	NP_861967.1:n.*255C>A
NM_181830.3:c.*255C>A	NP_861968.1:n.*255C>A
NM_181832.3:c.*270C>A	NP_861970.1:n.*270C>A
NR_156186.2:n.2465C>A
NM_181833.3:c.*195C>A	NP_861971.1:n.*195C>A