Canonical Allele Identifier: CA2656033157

Gene: NF2

Linked Data

• gnomAD v4: 22-29694989-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694989A>G , CM000684.2:g.29694989A>G	GRCh38
NC_000022.10:g.30090978A>G , CM000684.1:g.30090978A>G	GRCh37
NC_000022.9:g.28420978A>G	NCBI36
NG_009057.1:g.96434A>G , LRG_511:g.96434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*187A>G	ENSP00000354529.6:n.*187A>G
ENST00000673312.2:c.*1469A>G	ENSP00000500186.2:n.*1469A>G
ENST00000338641.10:c.*187A>G MANE Select	ENSP00000344666.5:n.*187A>G
ENST00000361166.9:c.1393A>G	ENSP00000354529.5:n.1393A>G
ENST00000672461.1:c.*247A>G	ENSP00000500919.1:n.*247A>G
ENST00000672896.1:c.*247A>G	ENSP00000500117.1:n.*247A>G
ENST00000673312.1:c.1994A>G	ENSP00000500186.1:n.1994A>G
ENST00000338641.8:c.*187A>G	ENSP00000344666.4:n.*187A>G
ENST00000361452.8:c.*247A>G	ENSP00000354897.4:n.*247A>G
ENST00000413209.6:c.*187A>G	ENSP00000409921.2:n.*187A>G
NM_000268.3:c.*187A>G , LRG_511t1:c.*187A>G	NP_000259.1:n.*187A>G
NM_016418.5:c.*247A>G , LRG_511t2:c.*247A>G	NP_057502.2:n.*247A>G
NM_181828.2:c.*247A>G	NP_861966.1:n.*247A>G
NM_181829.2:c.*247A>G	NP_861967.1:n.*247A>G
NM_181830.2:c.*247A>G	NP_861968.1:n.*247A>G
NM_181832.2:c.*262A>G	NP_861970.1:n.*262A>G
NM_181833.2:c.*187A>G	NP_861971.1:n.*187A>G
NR_156186.1:n.2534A>G
XM_017028809.2:c.*187A>G	XP_016884298.1:n.*187A>G
XM_017028810.1:c.*247A>G	XP_016884299.1:n.*247A>G
NM_000268.4:c.*187A>G MANE Select	NP_000259.1:n.*187A>G
NM_181828.3:c.*247A>G	NP_861966.1:n.*247A>G
NM_181829.3:c.*247A>G	NP_861967.1:n.*247A>G
NM_181830.3:c.*247A>G	NP_861968.1:n.*247A>G
NM_181832.3:c.*262A>G	NP_861970.1:n.*262A>G
NR_156186.2:n.2457A>G
NM_181833.3:c.*187A>G	NP_861971.1:n.*187A>G