Canonical Allele Identifier: CA2400692392
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694994T= , CM000684.2:g.29694994T= GRCh38
NC_000022.10:g.30090983T= , CM000684.1:g.30090983T= GRCh37
NC_000022.9:g.28420983T= NCBI36
NG_009057.1:g.96439T= , LRG_511:g.96439T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*192T= ENSP00000354529.6:n.*192T=
ENST00000673312.2:c.*1474T= ENSP00000500186.2:n.*1474T=
ENST00000338641.10:c.*192T= MANE Select ENSP00000344666.5:n.*192T=
ENST00000361166.9:c.1398T= ENSP00000354529.5:n.1398T=
ENST00000672461.1:c.*252T= ENSP00000500919.1:n.*252T=
ENST00000672896.1:c.*252T= ENSP00000500117.1:n.*252T=
ENST00000673312.1:c.1999T= ENSP00000500186.1:n.1999T=
ENST00000338641.8:c.*192T= ENSP00000344666.4:n.*192T=
ENST00000361452.8:c.*252T= ENSP00000354897.4:n.*252T=
ENST00000413209.6:c.*192T= ENSP00000409921.2:n.*192T=
NM_000268.3:c.*192T= , LRG_511t1:c.*192T= NP_000259.1:n.*192T=
NM_016418.5:c.*252T= , LRG_511t2:c.*252T= NP_057502.2:n.*252T=
NM_181828.2:c.*252T= NP_861966.1:n.*252T=
NM_181829.2:c.*252T= NP_861967.1:n.*252T=
NM_181830.2:c.*252T= NP_861968.1:n.*252T=
NM_181832.2:c.*267T= NP_861970.1:n.*267T=
NM_181833.2:c.*192T= NP_861971.1:n.*192T=
NR_156186.1:n.2539T=
XM_017028809.2:c.*192T= XP_016884298.1:n.*192T=
XM_017028810.1:c.*252T= XP_016884299.1:n.*252T=
NM_000268.4:c.*192T= MANE Select NP_000259.1:n.*192T=
NM_181828.3:c.*252T= NP_861966.1:n.*252T=
NM_181829.3:c.*252T= NP_861967.1:n.*252T=
NM_181830.3:c.*252T= NP_861968.1:n.*252T=
NM_181832.3:c.*267T= NP_861970.1:n.*267T=
NR_156186.2:n.2462T=
NM_181833.3:c.*192T= NP_861971.1:n.*192T=