Canonical Allele Identifier: CA645601118
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM24367

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673269_29673411del , CM000684.2:g.29673269_29673411del GRCh38
NC_000022.10:g.30069258_30069400del , CM000684.1:g.30069258_30069400del GRCh37
NC_000022.9:g.28399258_28399400del NCBI36
NG_009057.1:g.74714_74856del , LRG_511:g.74714_74856del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.988_1130del ENSP00000354529.6:p.Met330GlufsTer20
ENST00000673312.2:c.*617_*759del ENSP00000500186.2:n.*617_*759del
ENST00000338641.10:c.1123_1265del MANE Select ENSP00000344666.5:p.Met375GlufsTer20
ENST00000361166.9:c.541_683del ENSP00000354529.5:p.Met181GlufsTer20
ENST00000672461.1:c.1123_1265del ENSP00000500919.1:p.Met375GlufsTer20
ENST00000672805.1:c.*1005_*1147del ENSP00000500295.1:n.*1005_*1147del
ENST00000672896.1:c.1123_1265del ENSP00000500117.1:p.Met375GlufsTer20
ENST00000673312.1:c.1142_1284del ENSP00000500186.1:n.1142_1284del
ENST00000334961.11:c.874_1016del ENSP00000335652.7:p.Met292GlufsTer20
ENST00000338641.8:c.1123_1265del ENSP00000344666.4:p.Met375GlufsTer20
ENST00000353887.8:c.874_1016del ENSP00000340626.4:p.Met292GlufsTer20
ENST00000361166.8:c.1123_1265del ENSP00000354529.4:p.Met375GlufsTer20
ENST00000361452.8:c.1000_1142del ENSP00000354897.4:p.Met334GlufsTer20
ENST00000361676.8:c.997_1139del ENSP00000355183.4:p.Met333GlufsTer20
ENST00000397789.3:c.1123_1265del ENSP00000380891.3:p.Met375GlufsTer20
ENST00000403435.5:c.1036_1178del ENSP00000384029.1:p.Met346GlufsTer20
ENST00000403999.7:c.1123_1265del ENSP00000384797.3:p.Met375GlufsTer20
ENST00000413209.6:c.448-21483_448-21341del ENSP00000409921.2:n.448-21483_448-21341de...
ENST00000432151.5:c.523-1567_523-1425del ENSP00000395885.1:n.523-1567_523-1425del
NM_000268.3:c.1123_1265del , LRG_511t1:c.1123_1265del NP_000259.1:p.Met375GlufsTer20
NM_016418.5:c.1123_1265del , LRG_511t2:c.1123_1265del NP_057502.2:p.Met375GlufsTer20
NM_181825.2:c.1123_1265del NP_861546.1:p.Met375GlufsTer20
NM_181828.2:c.997_1139del NP_861966.1:p.Met333GlufsTer20
NM_181829.2:c.1000_1142del NP_861967.1:p.Met334GlufsTer20
NM_181830.2:c.874_1016del NP_861968.1:p.Met292GlufsTer20
NM_181831.2:c.874_1016del NP_861969.1:p.Met292GlufsTer20
NM_181832.2:c.1123_1265del NP_861970.1:p.Met375GlufsTer20
NM_181833.2:c.448-21483_448-21341del NP_861971.1:n.448-21483_448-21341del
NR_156186.1:n.1682_1824del
XM_017028809.2:c.1009_1151del XP_016884298.1:p.Met337GlufsTer20
XM_017028810.1:c.1009_1151del XP_016884299.1:p.Met337GlufsTer20
NM_000268.4:c.1123_1265del MANE Select NP_000259.1:p.Met375GlufsTer20
NM_181825.3:c.1123_1265del NP_861546.1:p.Met375GlufsTer20
NM_181828.3:c.997_1139del NP_861966.1:p.Met333GlufsTer20
NM_181829.3:c.1000_1142del NP_861967.1:p.Met334GlufsTer20
NM_181830.3:c.874_1016del NP_861968.1:p.Met292GlufsTer20
NM_181831.3:c.874_1016del NP_861969.1:p.Met292GlufsTer20
NM_181832.3:c.1123_1265del NP_861970.1:p.Met375GlufsTer20
NR_156186.2:n.1605_1747del
NM_181833.3:c.448-21483_448-21341del NP_861971.1:n.448-21483_448-21341del