Canonical Allele Identifier: CA514183140

Gene: NF2

Linked Data

• COSMIC: COSM23858
• MyVariant Identifiers: chr22:g.30057231del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661244del , CM000684.2:g.29661244del	GRCh38
NC_000022.10:g.30057233del , CM000684.1:g.30057233del	GRCh37
NC_000022.9:g.28387233del	NCBI36
NG_009057.1:g.62689del , LRG_511:g.62689del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2980del	ENSP00000354529.6:n.675+2980del
ENST00000673312.2:c.*209del	ENSP00000500186.2:n.*209del
ENST00000338641.10:c.715del MANE Select	ENSP00000344666.5:p.Leu239TrpfsTer12
ENST00000361166.9:c.228+2980del	ENSP00000354529.5:n.228+2980del
ENST00000672461.1:c.715del	ENSP00000500919.1:p.Leu239TrpfsTer12
ENST00000672805.1:c.*597del	ENSP00000500295.1:n.*597del
ENST00000672896.1:c.715del	ENSP00000500117.1:p.Leu239TrpfsTer12
ENST00000673312.1:c.734del	ENSP00000500186.1:n.734del
ENST00000334961.11:c.466del	ENSP00000335652.7:p.Leu156TrpfsTer12
ENST00000338641.8:c.715del	ENSP00000344666.4:p.Leu239TrpfsTer12
ENST00000353887.8:c.466del	ENSP00000340626.4:p.Leu156TrpfsTer12
ENST00000361166.8:c.715del	ENSP00000354529.4:p.Leu239TrpfsTer12
ENST00000361452.8:c.592del	ENSP00000354897.4:p.Leu198TrpfsTer12
ENST00000361676.8:c.589del	ENSP00000355183.4:p.Leu197TrpfsTer12
ENST00000397789.3:c.715del	ENSP00000380891.3:p.Leu239TrpfsTer12
ENST00000403435.5:c.715del	ENSP00000384029.1:p.Leu239TrpfsTer12
ENST00000403999.7:c.715del	ENSP00000384797.3:p.Leu239TrpfsTer12
ENST00000413209.6:c.447+18959del	ENSP00000409921.2:n.447+18959del
ENST00000432151.5:c.238del	ENSP00000395885.1:p.Leu80TrpfsTer12
NM_000268.3:c.715del , LRG_511t1:c.715del	NP_000259.1:p.Leu239TrpfsTer12
NM_016418.5:c.715del , LRG_511t2:c.715del	NP_057502.2:p.Leu239TrpfsTer12
NM_181825.2:c.715del	NP_861546.1:p.Leu239TrpfsTer12
NM_181828.2:c.589del	NP_861966.1:p.Leu197TrpfsTer12
NM_181829.2:c.592del	NP_861967.1:p.Leu198TrpfsTer12
NM_181830.2:c.466del	NP_861968.1:p.Leu156TrpfsTer12
NM_181831.2:c.466del	NP_861969.1:p.Leu156TrpfsTer12
NM_181832.2:c.715del	NP_861970.1:p.Leu239TrpfsTer12
NM_181833.2:c.447+18959del	NP_861971.1:n.447+18959del
NR_156186.1:n.1274del
XM_017028809.2:c.601del	XP_016884298.1:p.Leu201TrpfsTer12
XM_017028810.1:c.601del	XP_016884299.1:p.Leu201TrpfsTer12
NM_000268.4:c.715del MANE Select	NP_000259.1:p.Leu239TrpfsTer12
NM_181825.3:c.715del	NP_861546.1:p.Leu239TrpfsTer12
NM_181828.3:c.589del	NP_861966.1:p.Leu197TrpfsTer12
NM_181829.3:c.592del	NP_861967.1:p.Leu198TrpfsTer12
NM_181830.3:c.466del	NP_861968.1:p.Leu156TrpfsTer12
NM_181831.3:c.466del	NP_861969.1:p.Leu156TrpfsTer12
NM_181832.3:c.715del	NP_861970.1:p.Leu239TrpfsTer12
NR_156186.2:n.1197del
NM_181833.3:c.447+18959del	NP_861971.1:n.447+18959del