Canonical Allele Identifier: CA411142117

Gene: NF2

Linked Data

• dbSNP Id: rs2146966341
• MyVariant Identifiers: chr22:g.30050652G>C (hg19) ; chr22:g.29654663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654663G>C , CM000684.2:g.29654663G>C	GRCh38
NC_000022.10:g.30050652G>C , CM000684.1:g.30050652G>C	GRCh37
NC_000022.9:g.28380652G>C	NCBI36
NG_009057.1:g.56108G>C , LRG_511:g.56108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.454G>C	ENSP00000354529.6:p.Asp152His
ENST00000673312.2:c.454G>C	ENSP00000500186.2:p.Asp152His
ENST00000338641.10:c.454G>C MANE Select	ENSP00000344666.5:p.Asp152His
ENST00000361166.9:c.7G>C	ENSP00000354529.5:p.Asp3His
ENST00000672461.1:c.454G>C	ENSP00000500919.1:p.Asp152His
ENST00000672805.1:c.*336G>C	ENSP00000500295.1:n.*336G>C
ENST00000672896.1:c.454G>C	ENSP00000500117.1:p.Asp152His
ENST00000673312.1:c.367G>C	ENSP00000500186.1:p.Asp123His
ENST00000334961.11:c.205G>C	ENSP00000335652.7:p.Asp69His
ENST00000338641.8:c.454G>C	ENSP00000344666.4:p.Asp152His
ENST00000353887.8:c.205G>C	ENSP00000340626.4:p.Asp69His
ENST00000361166.8:c.454G>C	ENSP00000354529.4:p.Asp152His
ENST00000361452.8:c.331G>C	ENSP00000354897.4:p.Asp111His
ENST00000361676.8:c.328G>C	ENSP00000355183.4:p.Asp110His
ENST00000397789.3:c.454G>C	ENSP00000380891.3:p.Asp152His
ENST00000403435.5:c.454G>C	ENSP00000384029.1:p.Asp152His
ENST00000403999.7:c.454G>C	ENSP00000384797.3:p.Asp152His
ENST00000413209.6:c.447+12378G>C	ENSP00000409921.2:n.447+12378G>C
ENST00000432151.5:c.199-6542G>C	ENSP00000395885.1:n.199-6542G>C
NM_000268.3:c.454G>C , LRG_511t1:c.454G>C	NP_000259.1:p.Asp152His
NM_016418.5:c.454G>C , LRG_511t2:c.454G>C	NP_057502.2:p.Asp152His
NM_181825.2:c.454G>C	NP_861546.1:p.Asp152His
NM_181828.2:c.328G>C	NP_861966.1:p.Asp110His
NM_181829.2:c.331G>C	NP_861967.1:p.Asp111His
NM_181830.2:c.205G>C	NP_861968.1:p.Asp69His
NM_181831.2:c.205G>C	NP_861969.1:p.Asp69His
NM_181832.2:c.454G>C	NP_861970.1:p.Asp152His
NM_181833.2:c.447+12378G>C	NP_861971.1:n.447+12378G>C
NR_156186.1:n.1013G>C
XM_017028809.2:c.340G>C	XP_016884298.1:p.Asp114His
XM_017028810.1:c.340G>C	XP_016884299.1:p.Asp114His
NM_000268.4:c.454G>C MANE Select	NP_000259.1:p.Asp152His
NM_181825.3:c.454G>C	NP_861546.1:p.Asp152His
NM_181828.3:c.328G>C	NP_861966.1:p.Asp110His
NM_181829.3:c.331G>C	NP_861967.1:p.Asp111His
NM_181830.3:c.205G>C	NP_861968.1:p.Asp69His
NM_181831.3:c.205G>C	NP_861969.1:p.Asp69His
NM_181832.3:c.454G>C	NP_861970.1:p.Asp152His
NR_156186.2:n.936G>C
NM_181833.3:c.447+12378G>C	NP_861971.1:n.447+12378G>C