Canonical Allele Identifier: CA2695230520
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29681439_29681440delinsGA , CM000684.2:g.29681439_29681440delinsGA GRCh38
NC_000022.10:g.30077428_30077429delinsGA , CM000684.1:g.30077428_30077429delinsGA GRCh37
NC_000022.9:g.28407428_28407429delinsGA NCBI36
NG_009057.1:g.82884_82885delinsGA , LRG_511:g.82884_82885delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1440_1441delinsGA ENSP00000354529.6:p.Val481Met
ENST00000673312.2:c.*1069_*1070delinsGA ENSP00000500186.2:n.*1069_*1070delinsGA
ENST00000338641.10:c.1575_1576delinsGA MANE Select ENSP00000344666.5:p.Val526Met
ENST00000361166.9:c.993_994delinsGA ENSP00000354529.5:p.Val332Met
ENST00000672461.1:c.1575_1576delinsGA ENSP00000500919.1:p.Val526Met
ENST00000672805.1:c.*1457_*1458delinsGA ENSP00000500295.1:n.*1457_*1458delinsGA
ENST00000672896.1:c.1575_1576delinsGA ENSP00000500117.1:p.Val526Met
ENST00000673312.1:c.1594_1595delinsGA ENSP00000500186.1:n.1594_1595delinsGA
ENST00000334961.11:c.1326_1327delinsGA ENSP00000335652.7:p.Val443Met
ENST00000338641.8:c.1575_1576delinsGA ENSP00000344666.4:p.Val526Met
ENST00000353887.8:c.1326_1327delinsGA ENSP00000340626.4:p.Val443Met
ENST00000361166.8:c.1575_1576delinsGA ENSP00000354529.4:p.Val526Met
ENST00000361452.8:c.1452_1453delinsGA ENSP00000354897.4:p.Val485Met
ENST00000361676.8:c.1449_1450delinsGA ENSP00000355183.4:p.Val484Met
ENST00000397789.3:c.1575_1576delinsGA ENSP00000380891.3:p.Val526Met
ENST00000403435.5:c.1488_1489delinsGA ENSP00000384029.1:p.Val497Met
ENST00000403999.7:c.1575_1576delinsGA ENSP00000384797.3:p.Val526Met
ENST00000413209.6:c.448-13313_448-13312delinsGA ENSP00000409921.2:n.448-13313_448-13312delinsGA
ENST00000432151.5:c.*93+3116_*93+3117delinsGA ENSP00000395885.1:n.*93+3116_*93+3117delinsGA
NM_000268.3:c.1575_1576delinsGA , LRG_511t1:c.1575_1576delinsGA NP_000259.1:p.Val526Met
NM_016418.5:c.1575_1576delinsGA , LRG_511t2:c.1575_1576delinsGA NP_057502.2:p.Val526Met
NM_181825.2:c.1575_1576delinsGA NP_861546.1:p.Val526Met
NM_181828.2:c.1449_1450delinsGA NP_861966.1:p.Val484Met
NM_181829.2:c.1452_1453delinsGA NP_861967.1:p.Val485Met
NM_181830.2:c.1326_1327delinsGA NP_861968.1:p.Val443Met
NM_181831.2:c.1326_1327delinsGA NP_861969.1:p.Val443Met
NM_181832.2:c.1575_1576delinsGA NP_861970.1:p.Val526Met
NM_181833.2:c.448-13313_448-13312delinsGA NP_861971.1:n.448-13313_448-13312delinsGA
NR_156186.1:n.2134_2135delinsGA
XM_017028809.2:c.1461_1462delinsGA XP_016884298.1:p.Val488Met
XM_017028810.1:c.1461_1462delinsGA XP_016884299.1:p.Val488Met
NM_000268.4:c.1575_1576delinsGA MANE Select NP_000259.1:p.Val526Met
NM_181825.3:c.1575_1576delinsGA NP_861546.1:p.Val526Met
NM_181828.3:c.1449_1450delinsGA NP_861966.1:p.Val484Met
NM_181829.3:c.1452_1453delinsGA NP_861967.1:p.Val485Met
NM_181830.3:c.1326_1327delinsGA NP_861968.1:p.Val443Met
NM_181831.3:c.1326_1327delinsGA NP_861969.1:p.Val443Met
NM_181832.3:c.1575_1576delinsGA NP_861970.1:p.Val526Met
NR_156186.2:n.2057_2058delinsGA
NM_181833.3:c.448-13313_448-13312delinsGA NP_861971.1:n.448-13313_448-13312delinsGA