Canonical Allele Identifier: CA2656032943

Gene: NF2

Linked Data

• gnomAD v4: 22-29694864-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694864C>G , CM000684.2:g.29694864C>G	GRCh38
NC_000022.10:g.30090853C>G , CM000684.1:g.30090853C>G	GRCh37
NC_000022.9:g.28420853C>G	NCBI36
NG_009057.1:g.96309C>G , LRG_511:g.96309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*62C>G	ENSP00000354529.6:n.*62C>G
ENST00000673312.2:c.*1344C>G	ENSP00000500186.2:n.*1344C>G
ENST00000338641.10:c.*62C>G MANE Select	ENSP00000344666.5:n.*62C>G
ENST00000361166.9:c.1268C>G	ENSP00000354529.5:n.1268C>G
ENST00000672461.1:c.*122C>G	ENSP00000500919.1:n.*122C>G
ENST00000672805.1:c.*1732C>G	ENSP00000500295.1:n.*1732C>G
ENST00000672896.1:c.*122C>G	ENSP00000500117.1:n.*122C>G
ENST00000673312.1:c.1869C>G	ENSP00000500186.1:n.1869C>G
ENST00000338641.8:c.*62C>G	ENSP00000344666.4:n.*62C>G
ENST00000361452.8:c.*122C>G	ENSP00000354897.4:n.*122C>G
ENST00000413209.6:c.*62C>G	ENSP00000409921.2:n.*62C>G
ENST00000432151.5:c.*206C>G	ENSP00000395885.1:n.*206C>G
NM_000268.3:c.*62C>G , LRG_511t1:c.*62C>G	NP_000259.1:n.*62C>G
NM_016418.5:c.*122C>G , LRG_511t2:c.*122C>G	NP_057502.2:n.*122C>G
NM_181828.2:c.*122C>G	NP_861966.1:n.*122C>G
NM_181829.2:c.*122C>G	NP_861967.1:n.*122C>G
NM_181830.2:c.*122C>G	NP_861968.1:n.*122C>G
NM_181832.2:c.*137C>G	NP_861970.1:n.*137C>G
NM_181833.2:c.*62C>G	NP_861971.1:n.*62C>G
NR_156186.1:n.2409C>G
XM_017028809.2:c.*62C>G	XP_016884298.1:n.*62C>G
XM_017028810.1:c.*122C>G	XP_016884299.1:n.*122C>G
NM_000268.4:c.*62C>G MANE Select	NP_000259.1:n.*62C>G
NM_181828.3:c.*122C>G	NP_861966.1:n.*122C>G
NM_181829.3:c.*122C>G	NP_861967.1:n.*122C>G
NM_181830.3:c.*122C>G	NP_861968.1:n.*122C>G
NM_181832.3:c.*137C>G	NP_861970.1:n.*137C>G
NR_156186.2:n.2332C>G
NM_181833.3:c.*62C>G	NP_861971.1:n.*62C>G