Canonical Allele Identifier: CA2400692423
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695058T= , CM000684.2:g.29695058T= GRCh38
NC_000022.10:g.30091047T= , CM000684.1:g.30091047T= GRCh37
NC_000022.9:g.28421047T= NCBI36
NG_009057.1:g.96503T= , LRG_511:g.96503T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*256T= ENSP00000354529.6:n.*256T=
ENST00000673312.2:c.*1538T= ENSP00000500186.2:n.*1538T=
ENST00000338641.10:c.*256T= MANE Select ENSP00000344666.5:n.*256T=
ENST00000361166.9:c.1462T= ENSP00000354529.5:n.1462T=
ENST00000672461.1:c.*316T= ENSP00000500919.1:n.*316T=
ENST00000672896.1:c.*316T= ENSP00000500117.1:n.*316T=
ENST00000673312.1:c.2063T= ENSP00000500186.1:n.2063T=
ENST00000338641.8:c.*256T= ENSP00000344666.4:n.*256T=
ENST00000361452.8:c.*316T= ENSP00000354897.4:n.*316T=
ENST00000413209.6:c.*256T= ENSP00000409921.2:n.*256T=
NM_000268.3:c.*256T= , LRG_511t1:c.*256T= NP_000259.1:n.*256T=
NM_016418.5:c.*316T= , LRG_511t2:c.*316T= NP_057502.2:n.*316T=
NM_181828.2:c.*316T= NP_861966.1:n.*316T=
NM_181829.2:c.*316T= NP_861967.1:n.*316T=
NM_181830.2:c.*316T= NP_861968.1:n.*316T=
NM_181832.2:c.*331T= NP_861970.1:n.*331T=
NM_181833.2:c.*256T= NP_861971.1:n.*256T=
NR_156186.1:n.2603T=
XM_017028809.2:c.*256T= XP_016884298.1:n.*256T=
XM_017028810.1:c.*316T= XP_016884299.1:n.*316T=
NM_000268.4:c.*256T= MANE Select NP_000259.1:n.*256T=
NM_181828.3:c.*316T= NP_861966.1:n.*316T=
NM_181829.3:c.*316T= NP_861967.1:n.*316T=
NM_181830.3:c.*316T= NP_861968.1:n.*316T=
NM_181832.3:c.*331T= NP_861970.1:n.*331T=
NR_156186.2:n.2526T=
NM_181833.3:c.*256T= NP_861971.1:n.*256T=