Canonical Allele Identifier: CA2400693334
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696977T= , CM000684.2:g.29696977T= GRCh38
NC_000022.10:g.30092966T= , CM000684.1:g.30092966T= GRCh37
NC_000022.9:g.28422966T= NCBI36
NG_009057.1:g.98422T= , LRG_511:g.98422T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*2175T= MANE Select ENSP00000344666.5:n.*2175T=
ENST00000672461.1:c.*502-284T= ENSP00000500919.1:n.*502-284T=
ENST00000672896.1:c.*2235T= ENSP00000500117.1:n.*2235T=
ENST00000338641.8:c.*2175T= ENSP00000344666.4:n.*2175T=
ENST00000361452.8:c.*2235T= ENSP00000354897.4:n.*2235T=
ENST00000413209.6:c.*2175T= ENSP00000409921.2:n.*2175T=
NM_000268.3:c.*2175T= , LRG_511t1:c.*2175T= NP_000259.1:n.*2175T=
NM_016418.5:c.*2235T= , LRG_511t2:c.*2235T= NP_057502.2:n.*2235T=
NM_181828.2:c.*2235T= NP_861966.1:n.*2235T=
NM_181829.2:c.*2235T= NP_861967.1:n.*2235T=
NM_181830.2:c.*2235T= NP_861968.1:n.*2235T=
NM_181832.2:c.*2250T= NP_861970.1:n.*2250T=
NM_181833.2:c.*2175T= NP_861971.1:n.*2175T=
NR_156186.1:n.4522T=
XM_017028810.1:c.*2235T= XP_016884299.1:n.*2235T=
NM_000268.4:c.*2175T= MANE Select NP_000259.1:n.*2175T=
NM_181828.3:c.*2235T= NP_861966.1:n.*2235T=
NM_181829.3:c.*2235T= NP_861967.1:n.*2235T=
NM_181830.3:c.*2235T= NP_861968.1:n.*2235T=
NM_181832.3:c.*2250T= NP_861970.1:n.*2250T=
NR_156186.2:n.4445T=
NM_181833.3:c.*2175T= NP_861971.1:n.*2175T=