Canonical Allele Identifier: CA411143713

Gene: NF2

Linked Data

• COSMIC: COSM26800 ; COSM1682188
• MyVariant Identifiers: chr22:g.30057209G>T (hg19) ; chr22:g.29661220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661220G>T , CM000684.2:g.29661220G>T	GRCh38
NC_000022.10:g.30057209G>T , CM000684.1:g.30057209G>T	GRCh37
NC_000022.9:g.28387209G>T	NCBI36
NG_009057.1:g.62665G>T , LRG_511:g.62665G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+2956G>T	ENSP00000354529.6:n.675+2956G>T
ENST00000673312.2:c.*185G>T	ENSP00000500186.2:n.*185G>T
ENST00000338641.10:c.691G>T MANE Select	ENSP00000344666.5:p.Glu231Ter
ENST00000361166.9:c.228+2956G>T	ENSP00000354529.5:n.228+2956G>T
ENST00000672461.1:c.691G>T	ENSP00000500919.1:p.Glu231Ter
ENST00000672805.1:c.*573G>T	ENSP00000500295.1:n.*573G>T
ENST00000672896.1:c.691G>T	ENSP00000500117.1:p.Glu231Ter
ENST00000673312.1:c.710G>T	ENSP00000500186.1:n.710G>T
ENST00000334961.11:c.442G>T	ENSP00000335652.7:p.Glu148Ter
ENST00000338641.8:c.691G>T	ENSP00000344666.4:p.Glu231Ter
ENST00000353887.8:c.442G>T	ENSP00000340626.4:p.Glu148Ter
ENST00000361166.8:c.691G>T	ENSP00000354529.4:p.Glu231Ter
ENST00000361452.8:c.568G>T	ENSP00000354897.4:p.Glu190Ter
ENST00000361676.8:c.565G>T	ENSP00000355183.4:p.Glu189Ter
ENST00000397789.3:c.691G>T	ENSP00000380891.3:p.Glu231Ter
ENST00000403435.5:c.691G>T	ENSP00000384029.1:p.Glu231Ter
ENST00000403999.7:c.691G>T	ENSP00000384797.3:p.Glu231Ter
ENST00000413209.6:c.447+18935G>T	ENSP00000409921.2:n.447+18935G>T
ENST00000432151.5:c.214G>T	ENSP00000395885.1:p.Glu72Ter
NM_000268.3:c.691G>T , LRG_511t1:c.691G>T	NP_000259.1:p.Glu231Ter
NM_016418.5:c.691G>T , LRG_511t2:c.691G>T	NP_057502.2:p.Glu231Ter
NM_181825.2:c.691G>T	NP_861546.1:p.Glu231Ter
NM_181828.2:c.565G>T	NP_861966.1:p.Glu189Ter
NM_181829.2:c.568G>T	NP_861967.1:p.Glu190Ter
NM_181830.2:c.442G>T	NP_861968.1:p.Glu148Ter
NM_181831.2:c.442G>T	NP_861969.1:p.Glu148Ter
NM_181832.2:c.691G>T	NP_861970.1:p.Glu231Ter
NM_181833.2:c.447+18935G>T	NP_861971.1:n.447+18935G>T
NR_156186.1:n.1250G>T
XM_017028809.2:c.577G>T	XP_016884298.1:p.Glu193Ter
XM_017028810.1:c.577G>T	XP_016884299.1:p.Glu193Ter
NM_000268.4:c.691G>T MANE Select	NP_000259.1:p.Glu231Ter
NM_181825.3:c.691G>T	NP_861546.1:p.Glu231Ter
NM_181828.3:c.565G>T	NP_861966.1:p.Glu189Ter
NM_181829.3:c.568G>T	NP_861967.1:p.Glu190Ter
NM_181830.3:c.442G>T	NP_861968.1:p.Glu148Ter
NM_181831.3:c.442G>T	NP_861969.1:p.Glu148Ter
NM_181832.3:c.691G>T	NP_861970.1:p.Glu231Ter
NR_156186.2:n.1173G>T
NM_181833.3:c.447+18935G>T	NP_861971.1:n.447+18935G>T