Canonical Allele Identifier: CA2738087970
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2147123695

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29681600del , CM000684.2:g.29681600del GRCh38
NC_000022.10:g.30077589del , CM000684.1:g.30077589del GRCh37
NC_000022.9:g.28407589del NCBI36
NG_009057.1:g.83045del , LRG_511:g.83045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1601del ENSP00000354529.6:p.Lys534SerfsTer20
ENST00000673312.2:c.*1230del ENSP00000500186.2:n.*1230del
ENST00000338641.10:c.1736del MANE Select ENSP00000344666.5:p.Lys579SerfsTer20
ENST00000361166.9:c.1154del ENSP00000354529.5:p.Lys385SerfsTer20
ENST00000672461.1:c.1736del ENSP00000500919.1:p.Lys579SerfsTer?
ENST00000672805.1:c.*1618del ENSP00000500295.1:n.*1618del
ENST00000672896.1:c.1736del ENSP00000500117.1:p.Lys579SerfsTer?
ENST00000673312.1:c.1755del ENSP00000500186.1:n.1755del
ENST00000334961.11:c.1487del ENSP00000335652.7:p.Lys496SerfsTer22
ENST00000338641.8:c.1736del ENSP00000344666.4:p.Lys579SerfsTer20
ENST00000353887.8:c.1487del ENSP00000340626.4:p.Lys496SerfsTer?
ENST00000361166.8:c.1736del ENSP00000354529.4:p.Lys579SerfsTer?
ENST00000361452.8:c.1613del ENSP00000354897.4:p.Lys538SerfsTer?
ENST00000361676.8:c.1610del ENSP00000355183.4:p.Lys537SerfsTer?
ENST00000397789.3:c.1736del ENSP00000380891.3:p.Lys579SerfsTer17
ENST00000403435.5:c.1649del ENSP00000384029.1:p.Lys550SerfsTer22
ENST00000403999.7:c.1736del ENSP00000384797.3:p.Lys579SerfsTer17
ENST00000413209.6:c.448-13152del ENSP00000409921.2:n.448-13152del
ENST00000432151.5:c.*93+3277del ENSP00000395885.1:n.*93+3277del
NM_000268.3:c.1736del , LRG_511t1:c.1736del NP_000259.1:p.Lys579SerfsTer20
NM_016418.5:c.1736del , LRG_511t2:c.1736del NP_057502.2:p.Lys579SerfsTer?
NM_181825.2:c.1736del NP_861546.1:p.Lys579SerfsTer17
NM_181828.2:c.1610del NP_861966.1:p.Lys537SerfsTer?
NM_181829.2:c.1613del NP_861967.1:p.Lys538SerfsTer?
NM_181830.2:c.1487del NP_861968.1:p.Lys496SerfsTer?
NM_181831.2:c.1487del NP_861969.1:p.Lys496SerfsTer22
NM_181832.2:c.1736del NP_861970.1:p.Lys579SerfsTer17
NM_181833.2:c.448-13152del NP_861971.1:n.448-13152del
NR_156186.1:n.2295del
XM_017028809.2:c.1622del XP_016884298.1:p.Lys541SerfsTer20
XM_017028810.1:c.1622del XP_016884299.1:p.Lys541SerfsTer?
NM_000268.4:c.1736del MANE Select NP_000259.1:p.Lys579SerfsTer20
NM_181825.3:c.1736del NP_861546.1:p.Lys579SerfsTer17
NM_181828.3:c.1610del NP_861966.1:p.Lys537SerfsTer?
NM_181829.3:c.1613del NP_861967.1:p.Lys538SerfsTer?
NM_181830.3:c.1487del NP_861968.1:p.Lys496SerfsTer?
NM_181831.3:c.1487del NP_861969.1:p.Lys496SerfsTer22
NM_181832.3:c.1736del NP_861970.1:p.Lys579SerfsTer17
NR_156186.2:n.2218del
NM_181833.3:c.448-13152del NP_861971.1:n.448-13152del