Canonical Allele Identifier: CA411145533

Gene: NF2

Linked Data

• MyVariant Identifiers: chr22:g.30064322A>C (hg19) ; chr22:g.29668333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29668333A>C , CM000684.2:g.29668333A>C	GRCh38
NC_000022.10:g.30064322A>C , CM000684.1:g.30064322A>C	GRCh37
NC_000022.9:g.28394322A>C	NCBI36
NG_009057.1:g.69778A>C , LRG_511:g.69778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.751A>C	ENSP00000354529.6:p.Ile251Leu
ENST00000673312.2:c.*380A>C	ENSP00000500186.2:n.*380A>C
ENST00000338641.10:c.886A>C MANE Select	ENSP00000344666.5:p.Ile296Leu
ENST00000361166.9:c.304A>C	ENSP00000354529.5:p.Ile102Leu
ENST00000672461.1:c.886A>C	ENSP00000500919.1:p.Ile296Leu
ENST00000672805.1:c.*768A>C	ENSP00000500295.1:n.*768A>C
ENST00000672896.1:c.886A>C	ENSP00000500117.1:p.Ile296Leu
ENST00000673312.1:c.905A>C	ENSP00000500186.1:n.905A>C
ENST00000334961.11:c.637A>C	ENSP00000335652.7:p.Ile213Leu
ENST00000338641.8:c.886A>C	ENSP00000344666.4:p.Ile296Leu
ENST00000353887.8:c.637A>C	ENSP00000340626.4:p.Ile213Leu
ENST00000361166.8:c.886A>C	ENSP00000354529.4:p.Ile296Leu
ENST00000361452.8:c.763A>C	ENSP00000354897.4:p.Ile255Leu
ENST00000361676.8:c.760A>C	ENSP00000355183.4:p.Ile254Leu
ENST00000397789.3:c.886A>C	ENSP00000380891.3:p.Ile296Leu
ENST00000403435.5:c.886A>C	ENSP00000384029.1:p.Ile296Leu
ENST00000403999.7:c.886A>C	ENSP00000384797.3:p.Ile296Leu
ENST00000413209.6:c.447+26048A>C	ENSP00000409921.2:n.447+26048A>C
ENST00000432151.5:c.409A>C	ENSP00000395885.1:p.Ile137Leu
NM_000268.3:c.886A>C , LRG_511t1:c.886A>C	NP_000259.1:p.Ile296Leu
NM_016418.5:c.886A>C , LRG_511t2:c.886A>C	NP_057502.2:p.Ile296Leu
NM_181825.2:c.886A>C	NP_861546.1:p.Ile296Leu
NM_181828.2:c.760A>C	NP_861966.1:p.Ile254Leu
NM_181829.2:c.763A>C	NP_861967.1:p.Ile255Leu
NM_181830.2:c.637A>C	NP_861968.1:p.Ile213Leu
NM_181831.2:c.637A>C	NP_861969.1:p.Ile213Leu
NM_181832.2:c.886A>C	NP_861970.1:p.Ile296Leu
NM_181833.2:c.447+26048A>C	NP_861971.1:n.447+26048A>C
NR_156186.1:n.1445A>C
XM_017028809.2:c.772A>C	XP_016884298.1:p.Ile258Leu
XM_017028810.1:c.772A>C	XP_016884299.1:p.Ile258Leu
NM_000268.4:c.886A>C MANE Select	NP_000259.1:p.Ile296Leu
NM_181825.3:c.886A>C	NP_861546.1:p.Ile296Leu
NM_181828.3:c.760A>C	NP_861966.1:p.Ile254Leu
NM_181829.3:c.763A>C	NP_861967.1:p.Ile255Leu
NM_181830.3:c.637A>C	NP_861968.1:p.Ile213Leu
NM_181831.3:c.637A>C	NP_861969.1:p.Ile213Leu
NM_181832.3:c.886A>C	NP_861970.1:p.Ile296Leu
NR_156186.2:n.1368A>C
NM_181833.3:c.447+26048A>C	NP_861971.1:n.447+26048A>C