Canonical Allele Identifier: CA2656031950

Gene: NF2

Linked Data

• gnomAD v4: 22-29673265-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673265C>A , CM000684.2:g.29673265C>A	GRCh38
NC_000022.10:g.30069254C>A , CM000684.1:g.30069254C>A	GRCh37
NC_000022.9:g.28399254C>A	NCBI36
NG_009057.1:g.74710C>A , LRG_511:g.74710C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.988-4C>A	ENSP00000354529.6:n.988-4C>A
ENST00000673312.2:c.*617-4C>A	ENSP00000500186.2:n.*617-4C>A
ENST00000338641.10:c.1123-4C>A MANE Select	ENSP00000344666.5:n.1123-4C>A
ENST00000361166.9:c.541-4C>A	ENSP00000354529.5:n.541-4C>A
ENST00000672461.1:c.1123-4C>A	ENSP00000500919.1:n.1123-4C>A
ENST00000672805.1:c.*1005-4C>A	ENSP00000500295.1:n.*1005-4C>A
ENST00000672896.1:c.1123-4C>A	ENSP00000500117.1:n.1123-4C>A
ENST00000673312.1:c.1142-4C>A	ENSP00000500186.1:n.1142-4C>A
ENST00000334961.11:c.874-4C>A	ENSP00000335652.7:n.874-4C>A
ENST00000338641.8:c.1123-4C>A	ENSP00000344666.4:n.1123-4C>A
ENST00000353887.8:c.874-4C>A	ENSP00000340626.4:n.874-4C>A
ENST00000361166.8:c.1123-4C>A	ENSP00000354529.4:n.1123-4C>A
ENST00000361452.8:c.1000-4C>A	ENSP00000354897.4:n.1000-4C>A
ENST00000361676.8:c.997-4C>A	ENSP00000355183.4:n.997-4C>A
ENST00000397789.3:c.1123-4C>A	ENSP00000380891.3:n.1123-4C>A
ENST00000403435.5:c.1036-4C>A	ENSP00000384029.1:n.1036-4C>A
ENST00000403999.7:c.1123-4C>A	ENSP00000384797.3:n.1123-4C>A
ENST00000413209.6:c.448-21487C>A	ENSP00000409921.2:n.448-21487C>A
ENST00000432151.5:c.523-1571C>A	ENSP00000395885.1:n.523-1571C>A
NM_000268.3:c.1123-4C>A , LRG_511t1:c.1123-4C>A	NP_000259.1:n.1123-4C>A
NM_016418.5:c.1123-4C>A , LRG_511t2:c.1123-4C>A	NP_057502.2:n.1123-4C>A
NM_181825.2:c.1123-4C>A	NP_861546.1:n.1123-4C>A
NM_181828.2:c.997-4C>A	NP_861966.1:n.997-4C>A
NM_181829.2:c.1000-4C>A	NP_861967.1:n.1000-4C>A
NM_181830.2:c.874-4C>A	NP_861968.1:n.874-4C>A
NM_181831.2:c.874-4C>A	NP_861969.1:n.874-4C>A
NM_181832.2:c.1123-4C>A	NP_861970.1:n.1123-4C>A
NM_181833.2:c.448-21487C>A	NP_861971.1:n.448-21487C>A
NR_156186.1:n.1682-4C>A
XM_017028809.2:c.1009-4C>A	XP_016884298.1:n.1009-4C>A
XM_017028810.1:c.1009-4C>A	XP_016884299.1:n.1009-4C>A
NM_000268.4:c.1123-4C>A MANE Select	NP_000259.1:n.1123-4C>A
NM_181825.3:c.1123-4C>A	NP_861546.1:n.1123-4C>A
NM_181828.3:c.997-4C>A	NP_861966.1:n.997-4C>A
NM_181829.3:c.1000-4C>A	NP_861967.1:n.1000-4C>A
NM_181830.3:c.874-4C>A	NP_861968.1:n.874-4C>A
NM_181831.3:c.874-4C>A	NP_861969.1:n.874-4C>A
NM_181832.3:c.1123-4C>A	NP_861970.1:n.1123-4C>A
NR_156186.2:n.1605-4C>A
NM_181833.3:c.448-21487C>A	NP_861971.1:n.448-21487C>A