Canonical Allele Identifier: CA2400683258

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673306_29673307delinsAG , CM000684.2:g.29673306_29673307delinsAG	GRCh38
NC_000022.10:g.30069295_30069296delinsAG , CM000684.1:g.30069295_30069296delinsAG	GRCh37
NC_000022.9:g.28399295_28399296delinsAG	NCBI36
NG_009057.1:g.74751_74752delinsAG , LRG_511:g.74751_74752delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1025_1026delinsAG	ENSP00000354529.6:p.Lys342=
ENST00000673312.2:c.*654_*655delinsAG	ENSP00000500186.2:n.*654_*655delinsAG
ENST00000338641.10:c.1160_1161delinsAG MANE Select	ENSP00000344666.5:p.Lys387=
ENST00000361166.9:c.578_579delinsAG	ENSP00000354529.5:p.Lys193=
ENST00000672461.1:c.1160_1161delinsAG	ENSP00000500919.1:p.Lys387=
ENST00000672805.1:c.*1042_*1043delinsAG	ENSP00000500295.1:n.*1042_*1043delinsAG
ENST00000672896.1:c.1160_1161delinsAG	ENSP00000500117.1:p.Lys387=
ENST00000673312.1:c.1179_1180delinsAG	ENSP00000500186.1:n.1179_1180delinsAG
ENST00000334961.11:c.911_912delinsAG	ENSP00000335652.7:p.Lys304=
ENST00000338641.8:c.1160_1161delinsAG	ENSP00000344666.4:p.Lys387=
ENST00000353887.8:c.911_912delinsAG	ENSP00000340626.4:p.Lys304=
ENST00000361166.8:c.1160_1161delinsAG	ENSP00000354529.4:p.Lys387=
ENST00000361452.8:c.1037_1038delinsAG	ENSP00000354897.4:p.Lys346=
ENST00000361676.8:c.1034_1035delinsAG	ENSP00000355183.4:p.Lys345=
ENST00000397789.3:c.1160_1161delinsAG	ENSP00000380891.3:p.Lys387=
ENST00000403435.5:c.1073_1074delinsAG	ENSP00000384029.1:p.Lys358=
ENST00000403999.7:c.1160_1161delinsAG	ENSP00000384797.3:p.Lys387=
ENST00000413209.6:c.448-21446_448-21445delinsAG	ENSP00000409921.2:n.448-21446_448-21445delinsAG
ENST00000432151.5:c.523-1530_523-1529delinsAG	ENSP00000395885.1:n.523-1530_523-1529delinsAG
NM_000268.3:c.1160_1161delinsAG , LRG_511t1:c.1160_1161delinsAG	NP_000259.1:p.Lys387=
NM_016418.5:c.1160_1161delinsAG , LRG_511t2:c.1160_1161delinsAG	NP_057502.2:p.Lys387=
NM_181825.2:c.1160_1161delinsAG	NP_861546.1:p.Lys387=
NM_181828.2:c.1034_1035delinsAG	NP_861966.1:p.Lys345=
NM_181829.2:c.1037_1038delinsAG	NP_861967.1:p.Lys346=
NM_181830.2:c.911_912delinsAG	NP_861968.1:p.Lys304=
NM_181831.2:c.911_912delinsAG	NP_861969.1:p.Lys304=
NM_181832.2:c.1160_1161delinsAG	NP_861970.1:p.Lys387=
NM_181833.2:c.448-21446_448-21445delinsAG	NP_861971.1:n.448-21446_448-21445delinsAG
NR_156186.1:n.1719_1720delinsAG
XM_017028809.2:c.1046_1047delinsAG	XP_016884298.1:p.Lys349=
XM_017028810.1:c.1046_1047delinsAG	XP_016884299.1:p.Lys349=
NM_000268.4:c.1160_1161delinsAG MANE Select	NP_000259.1:p.Lys387=
NM_181825.3:c.1160_1161delinsAG	NP_861546.1:p.Lys387=
NM_181828.3:c.1034_1035delinsAG	NP_861966.1:p.Lys345=
NM_181829.3:c.1037_1038delinsAG	NP_861967.1:p.Lys346=
NM_181830.3:c.911_912delinsAG	NP_861968.1:p.Lys304=
NM_181831.3:c.911_912delinsAG	NP_861969.1:p.Lys304=
NM_181832.3:c.1160_1161delinsAG	NP_861970.1:p.Lys387=
NR_156186.2:n.1642_1643delinsAG
NM_181833.3:c.448-21446_448-21445delinsAG	NP_861971.1:n.448-21446_448-21445delinsAG