Canonical Allele Identifier: CA2400692543
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695300C= , CM000684.2:g.29695300C= GRCh38
NC_000022.10:g.30091289C= , CM000684.1:g.30091289C= GRCh37
NC_000022.9:g.28421289C= NCBI36
NG_009057.1:g.96745C= , LRG_511:g.96745C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*498C= MANE Select ENSP00000344666.5:n.*498C=
ENST00000672461.1:c.*501+57C= ENSP00000500919.1:n.*501+57C=
ENST00000672896.1:c.*558C= ENSP00000500117.1:n.*558C=
ENST00000338641.8:c.*498C= ENSP00000344666.4:n.*498C=
ENST00000361452.8:c.*558C= ENSP00000354897.4:n.*558C=
ENST00000413209.6:c.*498C= ENSP00000409921.2:n.*498C=
NM_000268.3:c.*498C= , LRG_511t1:c.*498C= NP_000259.1:n.*498C=
NM_016418.5:c.*558C= , LRG_511t2:c.*558C= NP_057502.2:n.*558C=
NM_181828.2:c.*558C= NP_861966.1:n.*558C=
NM_181829.2:c.*558C= NP_861967.1:n.*558C=
NM_181830.2:c.*558C= NP_861968.1:n.*558C=
NM_181832.2:c.*573C= NP_861970.1:n.*573C=
NM_181833.2:c.*498C= NP_861971.1:n.*498C=
NR_156186.1:n.2845C=
XM_017028810.1:c.*558C= XP_016884299.1:n.*558C=
NM_000268.4:c.*498C= MANE Select NP_000259.1:n.*498C=
NM_181828.3:c.*558C= NP_861966.1:n.*558C=
NM_181829.3:c.*558C= NP_861967.1:n.*558C=
NM_181830.3:c.*558C= NP_861968.1:n.*558C=
NM_181832.3:c.*573C= NP_861970.1:n.*573C=
NR_156186.2:n.2768C=
NM_181833.3:c.*498C= NP_861971.1:n.*498C=