Canonical Allele Identifier: CA645601060

Gene: NF2

Linked Data

• COSMIC: COSM23903

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661210_29661219del , CM000684.2:g.29661210_29661219del	GRCh38
NC_000022.10:g.30057199_30057208del , CM000684.1:g.30057199_30057208del	GRCh37
NC_000022.9:g.28387199_28387208del	NCBI36
NG_009057.1:g.62655_62664del , LRG_511:g.62655_62664del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2946_675+2955del	ENSP00000354529.6:n.675+2946_675+2955del
ENST00000673312.2:c.*175_*184del	ENSP00000500186.2:n.*175_*184del
ENST00000338641.10:c.681_690del MANE Select	ENSP00000344666.5:p.Lys228SerfsTer20
ENST00000361166.9:c.228+2946_228+2955del	ENSP00000354529.5:n.228+2946_228+2955del
ENST00000672461.1:c.681_690del	ENSP00000500919.1:p.Lys228SerfsTer20
ENST00000672805.1:c.*563_*572del	ENSP00000500295.1:n.*563_*572del
ENST00000672896.1:c.681_690del	ENSP00000500117.1:p.Lys228SerfsTer20
ENST00000673312.1:c.700_709del	ENSP00000500186.1:n.700_709del
ENST00000334961.11:c.432_441del	ENSP00000335652.7:p.Lys145SerfsTer20
ENST00000338641.8:c.681_690del	ENSP00000344666.4:p.Lys228SerfsTer20
ENST00000353887.8:c.432_441del	ENSP00000340626.4:p.Lys145SerfsTer20
ENST00000361166.8:c.681_690del	ENSP00000354529.4:p.Lys228SerfsTer20
ENST00000361452.8:c.558_567del	ENSP00000354897.4:p.Lys187SerfsTer20
ENST00000361676.8:c.555_564del	ENSP00000355183.4:p.Lys186SerfsTer20
ENST00000397789.3:c.681_690del	ENSP00000380891.3:p.Lys228SerfsTer20
ENST00000403435.5:c.681_690del	ENSP00000384029.1:p.Lys228SerfsTer20
ENST00000403999.7:c.681_690del	ENSP00000384797.3:p.Lys228SerfsTer20
ENST00000413209.6:c.447+18925_447+18934del	ENSP00000409921.2:n.447+18925_447+18934de...
ENST00000432151.5:c.204_213del	ENSP00000395885.1:p.Lys69SerfsTer20
NM_000268.3:c.681_690del , LRG_511t1:c.681_690del	NP_000259.1:p.Lys228SerfsTer20
NM_016418.5:c.681_690del , LRG_511t2:c.681_690del	NP_057502.2:p.Lys228SerfsTer20
NM_181825.2:c.681_690del	NP_861546.1:p.Lys228SerfsTer20
NM_181828.2:c.555_564del	NP_861966.1:p.Lys186SerfsTer20
NM_181829.2:c.558_567del	NP_861967.1:p.Lys187SerfsTer20
NM_181830.2:c.432_441del	NP_861968.1:p.Lys145SerfsTer20
NM_181831.2:c.432_441del	NP_861969.1:p.Lys145SerfsTer20
NM_181832.2:c.681_690del	NP_861970.1:p.Lys228SerfsTer20
NM_181833.2:c.447+18925_447+18934del	NP_861971.1:n.447+18925_447+18934del
NR_156186.1:n.1240_1249del
XM_017028809.2:c.567_576del	XP_016884298.1:p.Lys190SerfsTer20
XM_017028810.1:c.567_576del	XP_016884299.1:p.Lys190SerfsTer20
NM_000268.4:c.681_690del MANE Select	NP_000259.1:p.Lys228SerfsTer20
NM_181825.3:c.681_690del	NP_861546.1:p.Lys228SerfsTer20
NM_181828.3:c.555_564del	NP_861966.1:p.Lys186SerfsTer20
NM_181829.3:c.558_567del	NP_861967.1:p.Lys187SerfsTer20
NM_181830.3:c.432_441del	NP_861968.1:p.Lys145SerfsTer20
NM_181831.3:c.432_441del	NP_861969.1:p.Lys145SerfsTer20
NM_181832.3:c.681_690del	NP_861970.1:p.Lys228SerfsTer20
NR_156186.2:n.1163_1172del
NM_181833.3:c.447+18925_447+18934del	NP_861971.1:n.447+18925_447+18934del