Canonical Allele Identifier: CA2400692419
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695052T= , CM000684.2:g.29695052T= GRCh38
NC_000022.10:g.30091041T= , CM000684.1:g.30091041T= GRCh37
NC_000022.9:g.28421041T= NCBI36
NG_009057.1:g.96497T= , LRG_511:g.96497T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*250T= ENSP00000354529.6:n.*250T=
ENST00000673312.2:c.*1532T= ENSP00000500186.2:n.*1532T=
ENST00000338641.10:c.*250T= MANE Select ENSP00000344666.5:n.*250T=
ENST00000361166.9:c.1456T= ENSP00000354529.5:n.1456T=
ENST00000672461.1:c.*310T= ENSP00000500919.1:n.*310T=
ENST00000672896.1:c.*310T= ENSP00000500117.1:n.*310T=
ENST00000673312.1:c.2057T= ENSP00000500186.1:n.2057T=
ENST00000338641.8:c.*250T= ENSP00000344666.4:n.*250T=
ENST00000361452.8:c.*310T= ENSP00000354897.4:n.*310T=
ENST00000413209.6:c.*250T= ENSP00000409921.2:n.*250T=
NM_000268.3:c.*250T= , LRG_511t1:c.*250T= NP_000259.1:n.*250T=
NM_016418.5:c.*310T= , LRG_511t2:c.*310T= NP_057502.2:n.*310T=
NM_181828.2:c.*310T= NP_861966.1:n.*310T=
NM_181829.2:c.*310T= NP_861967.1:n.*310T=
NM_181830.2:c.*310T= NP_861968.1:n.*310T=
NM_181832.2:c.*325T= NP_861970.1:n.*325T=
NM_181833.2:c.*250T= NP_861971.1:n.*250T=
NR_156186.1:n.2597T=
XM_017028809.2:c.*250T= XP_016884298.1:n.*250T=
XM_017028810.1:c.*310T= XP_016884299.1:n.*310T=
NM_000268.4:c.*250T= MANE Select NP_000259.1:n.*250T=
NM_181828.3:c.*310T= NP_861966.1:n.*310T=
NM_181829.3:c.*310T= NP_861967.1:n.*310T=
NM_181830.3:c.*310T= NP_861968.1:n.*310T=
NM_181832.3:c.*325T= NP_861970.1:n.*325T=
NR_156186.2:n.2520T=
NM_181833.3:c.*250T= NP_861971.1:n.*250T=