Canonical Allele Identifier: CA2656032926

Gene: NF2

Linked Data

• gnomAD v4: 22-29694851-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694851C>A , CM000684.2:g.29694851C>A	GRCh38
NC_000022.10:g.30090840C>A , CM000684.1:g.30090840C>A	GRCh37
NC_000022.9:g.28420840C>A	NCBI36
NG_009057.1:g.96296C>A , LRG_511:g.96296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*49C>A	ENSP00000354529.6:n.*49C>A
ENST00000673312.2:c.*1331C>A	ENSP00000500186.2:n.*1331C>A
ENST00000338641.10:c.*49C>A MANE Select	ENSP00000344666.5:n.*49C>A
ENST00000361166.9:c.1255C>A	ENSP00000354529.5:n.1255C>A
ENST00000672461.1:c.*109C>A	ENSP00000500919.1:n.*109C>A
ENST00000672805.1:c.*1719C>A	ENSP00000500295.1:n.*1719C>A
ENST00000672896.1:c.*109C>A	ENSP00000500117.1:n.*109C>A
ENST00000673312.1:c.1856C>A	ENSP00000500186.1:n.1856C>A
ENST00000338641.8:c.*49C>A	ENSP00000344666.4:n.*49C>A
ENST00000361452.8:c.*109C>A	ENSP00000354897.4:n.*109C>A
ENST00000413209.6:c.*49C>A	ENSP00000409921.2:n.*49C>A
ENST00000432151.5:c.*193C>A	ENSP00000395885.1:n.*193C>A
NM_000268.3:c.*49C>A , LRG_511t1:c.*49C>A	NP_000259.1:n.*49C>A
NM_016418.5:c.*109C>A , LRG_511t2:c.*109C>A	NP_057502.2:n.*109C>A
NM_181828.2:c.*109C>A	NP_861966.1:n.*109C>A
NM_181829.2:c.*109C>A	NP_861967.1:n.*109C>A
NM_181830.2:c.*109C>A	NP_861968.1:n.*109C>A
NM_181832.2:c.*124C>A	NP_861970.1:n.*124C>A
NM_181833.2:c.*49C>A	NP_861971.1:n.*49C>A
NR_156186.1:n.2396C>A
XM_017028809.2:c.*49C>A	XP_016884298.1:n.*49C>A
XM_017028810.1:c.*109C>A	XP_016884299.1:n.*109C>A
NM_000268.4:c.*49C>A MANE Select	NP_000259.1:n.*49C>A
NM_181828.3:c.*109C>A	NP_861966.1:n.*109C>A
NM_181829.3:c.*109C>A	NP_861967.1:n.*109C>A
NM_181830.3:c.*109C>A	NP_861968.1:n.*109C>A
NM_181832.3:c.*124C>A	NP_861970.1:n.*124C>A
NR_156186.2:n.2319C>A
NM_181833.3:c.*49C>A	NP_861971.1:n.*49C>A