Canonical Allele Identifier: CA2400685412

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678237A= , CM000684.2:g.29678237A=	GRCh38
NC_000022.10:g.30074226A= , CM000684.1:g.30074226A=	GRCh37
NC_000022.9:g.28404226A=	NCBI36
NG_009057.1:g.79682A= , LRG_511:g.79682A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1353A=	ENSP00000354529.6:p.Pro451=
ENST00000673312.2:c.*982A=	ENSP00000500186.2:n.*982A=
ENST00000338641.10:c.1488A= MANE Select	ENSP00000344666.5:p.Pro496=
ENST00000361166.9:c.906A=	ENSP00000354529.5:p.Pro302=
ENST00000672461.1:c.1488A=	ENSP00000500919.1:p.Pro496=
ENST00000672805.1:c.*1370A=	ENSP00000500295.1:n.*1370A=
ENST00000672896.1:c.1488A=	ENSP00000500117.1:p.Pro496=
ENST00000673312.1:c.1507A=	ENSP00000500186.1:n.1507A=
ENST00000334961.11:c.1239A=	ENSP00000335652.7:p.Pro413=
ENST00000338641.8:c.1488A=	ENSP00000344666.4:p.Pro496=
ENST00000353887.8:c.1239A=	ENSP00000340626.4:p.Pro413=
ENST00000361166.8:c.1488A=	ENSP00000354529.4:p.Pro496=
ENST00000361452.8:c.1365A=	ENSP00000354897.4:p.Pro455=
ENST00000361676.8:c.1362A=	ENSP00000355183.4:p.Pro454=
ENST00000397789.3:c.1488A=	ENSP00000380891.3:p.Pro496=
ENST00000403435.5:c.1401A=	ENSP00000384029.1:p.Pro467=
ENST00000403999.7:c.1488A=	ENSP00000384797.3:p.Pro496=
ENST00000413209.6:c.448-16515A=	ENSP00000409921.2:n.448-16515A=
ENST00000432151.5:c.*7A=	ENSP00000395885.1:n.*7A=
NM_000268.3:c.1488A= , LRG_511t1:c.1488A=	NP_000259.1:p.Pro496=
NM_016418.5:c.1488A= , LRG_511t2:c.1488A=	NP_057502.2:p.Pro496=
NM_181825.2:c.1488A=	NP_861546.1:p.Pro496=
NM_181828.2:c.1362A=	NP_861966.1:p.Pro454=
NM_181829.2:c.1365A=	NP_861967.1:p.Pro455=
NM_181830.2:c.1239A=	NP_861968.1:p.Pro413=
NM_181831.2:c.1239A=	NP_861969.1:p.Pro413=
NM_181832.2:c.1488A=	NP_861970.1:p.Pro496=
NM_181833.2:c.448-16515A=	NP_861971.1:n.448-16515A=
NR_156186.1:n.2047A=
XM_017028809.2:c.1374A=	XP_016884298.1:p.Pro458=
XM_017028810.1:c.1374A=	XP_016884299.1:p.Pro458=
NM_000268.4:c.1488A= MANE Select	NP_000259.1:p.Pro496=
NM_181825.3:c.1488A=	NP_861546.1:p.Pro496=
NM_181828.3:c.1362A=	NP_861966.1:p.Pro454=
NM_181829.3:c.1365A=	NP_861967.1:p.Pro455=
NM_181830.3:c.1239A=	NP_861968.1:p.Pro413=
NM_181831.3:c.1239A=	NP_861969.1:p.Pro413=
NM_181832.3:c.1488A=	NP_861970.1:p.Pro496=
NR_156186.2:n.1970A=
NM_181833.3:c.448-16515A=	NP_861971.1:n.448-16515A=