Canonical Allele Identifier: CA2739267876

Gene: NF2

Linked Data

• ClinVar Variation Id: 2838602
• ClinVar RCV Id: RCV003608147

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678263del , CM000684.2:g.29678263del	GRCh38
NC_000022.10:g.30074252del , CM000684.1:g.30074252del	GRCh37
NC_000022.9:g.28404252del	NCBI36
NG_009057.1:g.79708del , LRG_511:g.79708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1379del	ENSP00000354529.6:p.Leu460ArgfsTer10
ENST00000673312.2:c.*1008del	ENSP00000500186.2:n.*1008del
ENST00000338641.10:c.1514del MANE Select	ENSP00000344666.5:p.Leu505ArgfsTer10
ENST00000361166.9:c.932del	ENSP00000354529.5:p.Leu311ArgfsTer10
ENST00000672461.1:c.1514del	ENSP00000500919.1:p.Leu505ArgfsTer10
ENST00000672805.1:c.*1396del	ENSP00000500295.1:n.*1396del
ENST00000672896.1:c.1514del	ENSP00000500117.1:p.Leu505ArgfsTer10
ENST00000673312.1:c.1533del	ENSP00000500186.1:n.1533del
ENST00000334961.11:c.1265del	ENSP00000335652.7:p.Leu422ArgfsTer10
ENST00000338641.8:c.1514del	ENSP00000344666.4:p.Leu505ArgfsTer10
ENST00000353887.8:c.1265del	ENSP00000340626.4:p.Leu422ArgfsTer10
ENST00000361166.8:c.1514del	ENSP00000354529.4:p.Leu505ArgfsTer10
ENST00000361452.8:c.1391del	ENSP00000354897.4:p.Leu464ArgfsTer10
ENST00000361676.8:c.1388del	ENSP00000355183.4:p.Leu463ArgfsTer10
ENST00000397789.3:c.1514del	ENSP00000380891.3:p.Leu505ArgfsTer10
ENST00000403435.5:c.1427del	ENSP00000384029.1:p.Leu476ArgfsTer10
ENST00000403999.7:c.1514del	ENSP00000384797.3:p.Leu505ArgfsTer10
ENST00000413209.6:c.448-16489del	ENSP00000409921.2:n.448-16489del
ENST00000432151.5:c.*33del	ENSP00000395885.1:n.*33del
NM_000268.3:c.1514del , LRG_511t1:c.1514del	NP_000259.1:p.Leu505ArgfsTer10
NM_016418.5:c.1514del , LRG_511t2:c.1514del	NP_057502.2:p.Leu505ArgfsTer10
NM_181825.2:c.1514del	NP_861546.1:p.Leu505ArgfsTer10
NM_181828.2:c.1388del	NP_861966.1:p.Leu463ArgfsTer10
NM_181829.2:c.1391del	NP_861967.1:p.Leu464ArgfsTer10
NM_181830.2:c.1265del	NP_861968.1:p.Leu422ArgfsTer10
NM_181831.2:c.1265del	NP_861969.1:p.Leu422ArgfsTer10
NM_181832.2:c.1514del	NP_861970.1:p.Leu505ArgfsTer10
NM_181833.2:c.448-16489del	NP_861971.1:n.448-16489del
NR_156186.1:n.2073del
XM_017028809.2:c.1400del	XP_016884298.1:p.Leu467ArgfsTer10
XM_017028810.1:c.1400del	XP_016884299.1:p.Leu467ArgfsTer10
NM_000268.4:c.1514del MANE Select	NP_000259.1:p.Leu505ArgfsTer10
NM_181825.3:c.1514del	NP_861546.1:p.Leu505ArgfsTer10
NM_181828.3:c.1388del	NP_861966.1:p.Leu463ArgfsTer10
NM_181829.3:c.1391del	NP_861967.1:p.Leu464ArgfsTer10
NM_181830.3:c.1265del	NP_861968.1:p.Leu422ArgfsTer10
NM_181831.3:c.1265del	NP_861969.1:p.Leu422ArgfsTer10
NM_181832.3:c.1514del	NP_861970.1:p.Leu505ArgfsTer10
NR_156186.2:n.1996del
NM_181833.3:c.448-16489del	NP_861971.1:n.448-16489del