Canonical Allele Identifier: CA514188736

Gene: NF2

Linked Data

• COSMIC: COSM1685331 ; COSM1685332
• MyVariant Identifiers: chr22:g.30074232del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678243del , CM000684.2:g.29678243del	GRCh38
NC_000022.10:g.30074232del , CM000684.1:g.30074232del	GRCh37
NC_000022.9:g.28404232del	NCBI36
NG_009057.1:g.79688del , LRG_511:g.79688del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1359del	ENSP00000354529.6:p.Phe453LeufsTer17
ENST00000673312.2:c.*988del	ENSP00000500186.2:n.*988del
ENST00000338641.10:c.1494del MANE Select	ENSP00000344666.5:p.Phe498LeufsTer17
ENST00000361166.9:c.912del	ENSP00000354529.5:p.Phe304LeufsTer17
ENST00000672461.1:c.1494del	ENSP00000500919.1:p.Phe498LeufsTer17
ENST00000672805.1:c.*1376del	ENSP00000500295.1:n.*1376del
ENST00000672896.1:c.1494del	ENSP00000500117.1:p.Phe498LeufsTer17
ENST00000673312.1:c.1513del	ENSP00000500186.1:n.1513del
ENST00000334961.11:c.1245del	ENSP00000335652.7:p.Phe415LeufsTer17
ENST00000338641.8:c.1494del	ENSP00000344666.4:p.Phe498LeufsTer17
ENST00000353887.8:c.1245del	ENSP00000340626.4:p.Phe415LeufsTer17
ENST00000361166.8:c.1494del	ENSP00000354529.4:p.Phe498LeufsTer17
ENST00000361452.8:c.1371del	ENSP00000354897.4:p.Phe457LeufsTer17
ENST00000361676.8:c.1368del	ENSP00000355183.4:p.Phe456LeufsTer17
ENST00000397789.3:c.1494del	ENSP00000380891.3:p.Phe498LeufsTer17
ENST00000403435.5:c.1407del	ENSP00000384029.1:p.Phe469LeufsTer17
ENST00000403999.7:c.1494del	ENSP00000384797.3:p.Phe498LeufsTer17
ENST00000413209.6:c.448-16509del	ENSP00000409921.2:n.448-16509del
ENST00000432151.5:c.*13del	ENSP00000395885.1:n.*13del
NM_000268.3:c.1494del , LRG_511t1:c.1494del	NP_000259.1:p.Phe498LeufsTer17
NM_016418.5:c.1494del , LRG_511t2:c.1494del	NP_057502.2:p.Phe498LeufsTer17
NM_181825.2:c.1494del	NP_861546.1:p.Phe498LeufsTer17
NM_181828.2:c.1368del	NP_861966.1:p.Phe456LeufsTer17
NM_181829.2:c.1371del	NP_861967.1:p.Phe457LeufsTer17
NM_181830.2:c.1245del	NP_861968.1:p.Phe415LeufsTer17
NM_181831.2:c.1245del	NP_861969.1:p.Phe415LeufsTer17
NM_181832.2:c.1494del	NP_861970.1:p.Phe498LeufsTer17
NM_181833.2:c.448-16509del	NP_861971.1:n.448-16509del
NR_156186.1:n.2053del
XM_017028809.2:c.1380del	XP_016884298.1:p.Phe460LeufsTer17
XM_017028810.1:c.1380del	XP_016884299.1:p.Phe460LeufsTer17
NM_000268.4:c.1494del MANE Select	NP_000259.1:p.Phe498LeufsTer17
NM_181825.3:c.1494del	NP_861546.1:p.Phe498LeufsTer17
NM_181828.3:c.1368del	NP_861966.1:p.Phe456LeufsTer17
NM_181829.3:c.1371del	NP_861967.1:p.Phe457LeufsTer17
NM_181830.3:c.1245del	NP_861968.1:p.Phe415LeufsTer17
NM_181831.3:c.1245del	NP_861969.1:p.Phe415LeufsTer17
NM_181832.3:c.1494del	NP_861970.1:p.Phe498LeufsTer17
NR_156186.2:n.1976del
NM_181833.3:c.448-16509del	NP_861971.1:n.448-16509del