Canonical Allele Identifier: CA2656032133

Gene: NF2

Linked Data

• dbSNP Id: rs2147091097
• gnomAD v4: 22-29674787-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674787T>C , CM000684.2:g.29674787T>C	GRCh38
NC_000022.10:g.30070776T>C , CM000684.1:g.30070776T>C	GRCh37
NC_000022.9:g.28400776T>C	NCBI36
NG_009057.1:g.76232T>C , LRG_511:g.76232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1206-49T>C	ENSP00000354529.6:n.1206-49T>C
ENST00000673312.2:c.*835-49T>C	ENSP00000500186.2:n.*835-49T>C
ENST00000338641.10:c.1341-49T>C MANE Select	ENSP00000344666.5:n.1341-49T>C
ENST00000361166.9:c.759-49T>C	ENSP00000354529.5:n.759-49T>C
ENST00000672461.1:c.1341-49T>C	ENSP00000500919.1:n.1341-49T>C
ENST00000672805.1:c.*1223-49T>C	ENSP00000500295.1:n.*1223-49T>C
ENST00000672896.1:c.1341-49T>C	ENSP00000500117.1:n.1341-49T>C
ENST00000673312.1:c.1360-49T>C	ENSP00000500186.1:n.1360-49T>C
ENST00000334961.11:c.1092-49T>C	ENSP00000335652.7:n.1092-49T>C
ENST00000338641.8:c.1341-49T>C	ENSP00000344666.4:n.1341-49T>C
ENST00000353887.8:c.1092-49T>C	ENSP00000340626.4:n.1092-49T>C
ENST00000361166.8:c.1341-49T>C	ENSP00000354529.4:n.1341-49T>C
ENST00000361452.8:c.1218-49T>C	ENSP00000354897.4:n.1218-49T>C
ENST00000361676.8:c.1215-49T>C	ENSP00000355183.4:n.1215-49T>C
ENST00000397789.3:c.1341-49T>C	ENSP00000380891.3:n.1341-49T>C
ENST00000403435.5:c.1254-49T>C	ENSP00000384029.1:n.1254-49T>C
ENST00000403999.7:c.1341-49T>C	ENSP00000384797.3:n.1341-49T>C
ENST00000413209.6:c.448-19965T>C	ENSP00000409921.2:n.448-19965T>C
ENST00000432151.5:c.523-49T>C	ENSP00000395885.1:n.523-49T>C
NM_000268.3:c.1341-49T>C , LRG_511t1:c.1341-49T>C	NP_000259.1:n.1341-49T>C
NM_016418.5:c.1341-49T>C , LRG_511t2:c.1341-49T>C	NP_057502.2:n.1341-49T>C
NM_181825.2:c.1341-49T>C	NP_861546.1:n.1341-49T>C
NM_181828.2:c.1215-49T>C	NP_861966.1:n.1215-49T>C
NM_181829.2:c.1218-49T>C	NP_861967.1:n.1218-49T>C
NM_181830.2:c.1092-49T>C	NP_861968.1:n.1092-49T>C
NM_181831.2:c.1092-49T>C	NP_861969.1:n.1092-49T>C
NM_181832.2:c.1341-49T>C	NP_861970.1:n.1341-49T>C
NM_181833.2:c.448-19965T>C	NP_861971.1:n.448-19965T>C
NR_156186.1:n.1900-49T>C
XM_017028809.2:c.1227-49T>C	XP_016884298.1:n.1227-49T>C
XM_017028810.1:c.1227-49T>C	XP_016884299.1:n.1227-49T>C
NM_000268.4:c.1341-49T>C MANE Select	NP_000259.1:n.1341-49T>C
NM_181825.3:c.1341-49T>C	NP_861546.1:n.1341-49T>C
NM_181828.3:c.1215-49T>C	NP_861966.1:n.1215-49T>C
NM_181829.3:c.1218-49T>C	NP_861967.1:n.1218-49T>C
NM_181830.3:c.1092-49T>C	NP_861968.1:n.1092-49T>C
NM_181831.3:c.1092-49T>C	NP_861969.1:n.1092-49T>C
NM_181832.3:c.1341-49T>C	NP_861970.1:n.1341-49T>C
NR_156186.2:n.1823-49T>C
NM_181833.3:c.448-19965T>C	NP_861971.1:n.448-19965T>C