Canonical Allele Identifier: CA2656031795

Gene: NF2

Linked Data

• dbSNP Id: rs2147075365
• gnomAD v4: 22-29672028-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29672028C>A , CM000684.2:g.29672028C>A	GRCh38
NC_000022.10:g.30068017C>A , CM000684.1:g.30068017C>A	GRCh37
NC_000022.9:g.28398017C>A	NCBI36
NG_009057.1:g.73473C>A , LRG_511:g.73473C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.987+80C>A	ENSP00000354529.6:n.987+80C>A
ENST00000673312.2:c.*616+80C>A	ENSP00000500186.2:n.*616+80C>A
ENST00000338641.10:c.1122+80C>A MANE Select	ENSP00000344666.5:n.1122+80C>A
ENST00000361166.9:c.540+80C>A	ENSP00000354529.5:n.540+80C>A
ENST00000672461.1:c.1122+80C>A	ENSP00000500919.1:n.1122+80C>A
ENST00000672805.1:c.*1004+80C>A	ENSP00000500295.1:n.*1004+80C>A
ENST00000672896.1:c.1122+80C>A	ENSP00000500117.1:n.1122+80C>A
ENST00000673312.1:c.1141+80C>A	ENSP00000500186.1:n.1141+80C>A
ENST00000334961.11:c.873+80C>A	ENSP00000335652.7:n.873+80C>A
ENST00000338641.8:c.1122+80C>A	ENSP00000344666.4:n.1122+80C>A
ENST00000353887.8:c.873+80C>A	ENSP00000340626.4:n.873+80C>A
ENST00000361166.8:c.1122+80C>A	ENSP00000354529.4:n.1122+80C>A
ENST00000361452.8:c.999+80C>A	ENSP00000354897.4:n.999+80C>A
ENST00000361676.8:c.996+80C>A	ENSP00000355183.4:n.996+80C>A
ENST00000397789.3:c.1122+80C>A	ENSP00000380891.3:n.1122+80C>A
ENST00000403435.5:c.1035+80C>A	ENSP00000384029.1:n.1035+80C>A
ENST00000403999.7:c.1122+80C>A	ENSP00000384797.3:n.1122+80C>A
ENST00000413209.6:c.448-22724C>A	ENSP00000409921.2:n.448-22724C>A
ENST00000432151.5:c.523-2808C>A	ENSP00000395885.1:n.523-2808C>A
NM_000268.3:c.1122+80C>A , LRG_511t1:c.1122+80C>A	NP_000259.1:n.1122+80C>A
NM_016418.5:c.1122+80C>A , LRG_511t2:c.1122+80C>A	NP_057502.2:n.1122+80C>A
NM_181825.2:c.1122+80C>A	NP_861546.1:n.1122+80C>A
NM_181828.2:c.996+80C>A	NP_861966.1:n.996+80C>A
NM_181829.2:c.999+80C>A	NP_861967.1:n.999+80C>A
NM_181830.2:c.873+80C>A	NP_861968.1:n.873+80C>A
NM_181831.2:c.873+80C>A	NP_861969.1:n.873+80C>A
NM_181832.2:c.1122+80C>A	NP_861970.1:n.1122+80C>A
NM_181833.2:c.448-22724C>A	NP_861971.1:n.448-22724C>A
NR_156186.1:n.1681+80C>A
XM_017028809.2:c.1008+80C>A	XP_016884298.1:n.1008+80C>A
XM_017028810.1:c.1008+80C>A	XP_016884299.1:n.1008+80C>A
NM_000268.4:c.1122+80C>A MANE Select	NP_000259.1:n.1122+80C>A
NM_181825.3:c.1122+80C>A	NP_861546.1:n.1122+80C>A
NM_181828.3:c.996+80C>A	NP_861966.1:n.996+80C>A
NM_181829.3:c.999+80C>A	NP_861967.1:n.999+80C>A
NM_181830.3:c.873+80C>A	NP_861968.1:n.873+80C>A
NM_181831.3:c.873+80C>A	NP_861969.1:n.873+80C>A
NM_181832.3:c.1122+80C>A	NP_861970.1:n.1122+80C>A
NR_156186.2:n.1604+80C>A
NM_181833.3:c.448-22724C>A	NP_861971.1:n.448-22724C>A