Canonical Allele Identifier: CA411147011

Gene: NF2

Linked Data

• dbSNP Id: rs2147073058
• MyVariant Identifiers: chr22:g.30067888G>C (hg19) ; chr22:g.29671899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671899G>C , CM000684.2:g.29671899G>C	GRCh38
NC_000022.10:g.30067888G>C , CM000684.1:g.30067888G>C	GRCh37
NC_000022.9:g.28397888G>C	NCBI36
NG_009057.1:g.73344G>C , LRG_511:g.73344G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.938G>C	ENSP00000354529.6:p.Arg313Thr
ENST00000673312.2:c.*567G>C	ENSP00000500186.2:n.*567G>C
ENST00000338641.10:c.1073G>C MANE Select	ENSP00000344666.5:p.Arg358Thr
ENST00000361166.9:c.491G>C	ENSP00000354529.5:p.Arg164Thr
ENST00000672461.1:c.1073G>C	ENSP00000500919.1:p.Arg358Thr
ENST00000672805.1:c.*955G>C	ENSP00000500295.1:n.*955G>C
ENST00000672896.1:c.1073G>C	ENSP00000500117.1:p.Arg358Thr
ENST00000673312.1:c.1092G>C	ENSP00000500186.1:n.1092G>C
ENST00000334961.11:c.824G>C	ENSP00000335652.7:p.Arg275Thr
ENST00000338641.8:c.1073G>C	ENSP00000344666.4:p.Arg358Thr
ENST00000353887.8:c.824G>C	ENSP00000340626.4:p.Arg275Thr
ENST00000361166.8:c.1073G>C	ENSP00000354529.4:p.Arg358Thr
ENST00000361452.8:c.950G>C	ENSP00000354897.4:p.Arg317Thr
ENST00000361676.8:c.947G>C	ENSP00000355183.4:p.Arg316Thr
ENST00000397789.3:c.1073G>C	ENSP00000380891.3:p.Arg358Thr
ENST00000403435.5:c.1000-14G>C	ENSP00000384029.1:n.1000-14G>C
ENST00000403999.7:c.1073G>C	ENSP00000384797.3:p.Arg358Thr
ENST00000413209.6:c.448-22853G>C	ENSP00000409921.2:n.448-22853G>C
ENST00000432151.5:c.523-2937G>C	ENSP00000395885.1:n.523-2937G>C
NM_000268.3:c.1073G>C , LRG_511t1:c.1073G>C	NP_000259.1:p.Arg358Thr
NM_016418.5:c.1073G>C , LRG_511t2:c.1073G>C	NP_057502.2:p.Arg358Thr
NM_181825.2:c.1073G>C	NP_861546.1:p.Arg358Thr
NM_181828.2:c.947G>C	NP_861966.1:p.Arg316Thr
NM_181829.2:c.950G>C	NP_861967.1:p.Arg317Thr
NM_181830.2:c.824G>C	NP_861968.1:p.Arg275Thr
NM_181831.2:c.824G>C	NP_861969.1:p.Arg275Thr
NM_181832.2:c.1073G>C	NP_861970.1:p.Arg358Thr
NM_181833.2:c.448-22853G>C	NP_861971.1:n.448-22853G>C
NR_156186.1:n.1632G>C
XM_017028809.2:c.959G>C	XP_016884298.1:p.Arg320Thr
XM_017028810.1:c.959G>C	XP_016884299.1:p.Arg320Thr
NM_000268.4:c.1073G>C MANE Select	NP_000259.1:p.Arg358Thr
NM_181825.3:c.1073G>C	NP_861546.1:p.Arg358Thr
NM_181828.3:c.947G>C	NP_861966.1:p.Arg316Thr
NM_181829.3:c.950G>C	NP_861967.1:p.Arg317Thr
NM_181830.3:c.824G>C	NP_861968.1:p.Arg275Thr
NM_181831.3:c.824G>C	NP_861969.1:p.Arg275Thr
NM_181832.3:c.1073G>C	NP_861970.1:p.Arg358Thr
NR_156186.2:n.1555G>C
NM_181833.3:c.448-22853G>C	NP_861971.1:n.448-22853G>C