Canonical Allele Identifier: CA2400692425

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695061C= , CM000684.2:g.29695061C=	GRCh38
NC_000022.10:g.30091050C= , CM000684.1:g.30091050C=	GRCh37
NC_000022.9:g.28421050C=	NCBI36
NG_009057.1:g.96506C= , LRG_511:g.96506C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*259C= MANE Select	ENSP00000344666.5:n.*259C=
ENST00000672461.1:c.*319C=	ENSP00000500919.1:n.*319C=
ENST00000672896.1:c.*319C=	ENSP00000500117.1:n.*319C=
ENST00000338641.8:c.*259C=	ENSP00000344666.4:n.*259C=
ENST00000361452.8:c.*319C=	ENSP00000354897.4:n.*319C=
ENST00000413209.6:c.*259C=	ENSP00000409921.2:n.*259C=
NM_000268.3:c.*259C= , LRG_511t1:c.*259C=	NP_000259.1:n.*259C=
NM_016418.5:c.*319C= , LRG_511t2:c.*319C=	NP_057502.2:n.*319C=
NM_181828.2:c.*319C=	NP_861966.1:n.*319C=
NM_181829.2:c.*319C=	NP_861967.1:n.*319C=
NM_181830.2:c.*319C=	NP_861968.1:n.*319C=
NM_181832.2:c.*334C=	NP_861970.1:n.*334C=
NM_181833.2:c.*259C=	NP_861971.1:n.*259C=
NR_156186.1:n.2606C=
XM_017028809.2:c.*259C=	XP_016884298.1:n.*259C=
XM_017028810.1:c.*319C=	XP_016884299.1:n.*319C=
NM_000268.4:c.*259C= MANE Select	NP_000259.1:n.*259C=
NM_181828.3:c.*319C=	NP_861966.1:n.*319C=
NM_181829.3:c.*319C=	NP_861967.1:n.*319C=
NM_181830.3:c.*319C=	NP_861968.1:n.*319C=
NM_181832.3:c.*334C=	NP_861970.1:n.*334C=
NR_156186.2:n.2529C=
NM_181833.3:c.*259C=	NP_861971.1:n.*259C=