Canonical Allele Identifier: CA514184072
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM23735
MyVariant Identifiers: chr22:g.30064378del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29668390del , CM000684.2:g.29668390del GRCh38
NC_000022.10:g.30064379del , CM000684.1:g.30064379del GRCh37
NC_000022.9:g.28394379del NCBI36
NG_009057.1:g.69835del , LRG_511:g.69835del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.808del ENSP00000354529.6:p.Ser270LeufsTer7
ENST00000673312.2:c.*437del ENSP00000500186.2:n.*437del
ENST00000338641.10:c.943del MANE Select ENSP00000344666.5:p.Ser315LeufsTer7
ENST00000361166.9:c.361del ENSP00000354529.5:p.Ser121LeufsTer7
ENST00000672461.1:c.943del ENSP00000500919.1:p.Ser315LeufsTer7
ENST00000672805.1:c.*825del ENSP00000500295.1:n.*825del
ENST00000672896.1:c.943del ENSP00000500117.1:p.Ser315LeufsTer7
ENST00000673312.1:c.962del ENSP00000500186.1:n.962del
ENST00000334961.11:c.694del ENSP00000335652.7:p.Ser232LeufsTer7
ENST00000338641.8:c.943del ENSP00000344666.4:p.Ser315LeufsTer7
ENST00000353887.8:c.694del ENSP00000340626.4:p.Ser232LeufsTer7
ENST00000361166.8:c.943del ENSP00000354529.4:p.Ser315LeufsTer7
ENST00000361452.8:c.820del ENSP00000354897.4:p.Ser274LeufsTer7
ENST00000361676.8:c.817del ENSP00000355183.4:p.Ser273LeufsTer7
ENST00000397789.3:c.943del ENSP00000380891.3:p.Ser315LeufsTer7
ENST00000403435.5:c.943del ENSP00000384029.1:p.Ser315LeufsTer7
ENST00000403999.7:c.943del ENSP00000384797.3:p.Ser315LeufsTer7
ENST00000413209.6:c.447+26105del ENSP00000409921.2:n.447+26105del
ENST00000432151.5:c.466del ENSP00000395885.1:p.Ser156LeufsTer7
NM_000268.3:c.943del , LRG_511t1:c.943del NP_000259.1:p.Ser315LeufsTer7
NM_016418.5:c.943del , LRG_511t2:c.943del NP_057502.2:p.Ser315LeufsTer7
NM_181825.2:c.943del NP_861546.1:p.Ser315LeufsTer7
NM_181828.2:c.817del NP_861966.1:p.Ser273LeufsTer7
NM_181829.2:c.820del NP_861967.1:p.Ser274LeufsTer7
NM_181830.2:c.694del NP_861968.1:p.Ser232LeufsTer7
NM_181831.2:c.694del NP_861969.1:p.Ser232LeufsTer7
NM_181832.2:c.943del NP_861970.1:p.Ser315LeufsTer7
NM_181833.2:c.447+26105del NP_861971.1:n.447+26105del
NR_156186.1:n.1502del
XM_017028809.2:c.829del XP_016884298.1:p.Ser277LeufsTer7
XM_017028810.1:c.829del XP_016884299.1:p.Ser277LeufsTer7
NM_000268.4:c.943del MANE Select NP_000259.1:p.Ser315LeufsTer7
NM_181825.3:c.943del NP_861546.1:p.Ser315LeufsTer7
NM_181828.3:c.817del NP_861966.1:p.Ser273LeufsTer7
NM_181829.3:c.820del NP_861967.1:p.Ser274LeufsTer7
NM_181830.3:c.694del NP_861968.1:p.Ser232LeufsTer7
NM_181831.3:c.694del NP_861969.1:p.Ser232LeufsTer7
NM_181832.3:c.943del NP_861970.1:p.Ser315LeufsTer7
NR_156186.2:n.1425del
NM_181833.3:c.447+26105del NP_861971.1:n.447+26105del