Canonical Allele Identifier: CA1139771154

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29661317_29661323dup , CM000684.2:g.29661317_29661323dup	GRCh38
NC_000022.10:g.30057306_30057312dup , CM000684.1:g.30057306_30057312dup	GRCh37
NC_000022.9:g.28387306_28387312dup	NCBI36
NG_009057.1:g.62762_62768dup , LRG_511:g.62762_62768dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.675+3053_675+3059dup	ENSP00000354529.6:n.675+3053_675+3059dup
ENST00000673312.2:c.*282_*288dup	ENSP00000500186.2:n.*282_*288dup
ENST00000338641.10:c.788_794dup MANE Select	ENSP00000344666.5:p.Tyr266HisfsTer5
ENST00000361166.9:c.228+3053_228+3059dup	ENSP00000354529.5:n.228+3053_228+3059dup
ENST00000672461.1:c.788_794dup	ENSP00000500919.1:p.Tyr266HisfsTer5
ENST00000672805.1:c.*670_*676dup	ENSP00000500295.1:n.*670_*676dup
ENST00000672896.1:c.788_794dup	ENSP00000500117.1:p.Tyr266HisfsTer5
ENST00000673312.1:c.807_813dup	ENSP00000500186.1:n.807_813dup
ENST00000334961.11:c.539_545dup	ENSP00000335652.7:p.Tyr183HisfsTer5
ENST00000338641.8:c.788_794dup	ENSP00000344666.4:p.Tyr266HisfsTer5
ENST00000353887.8:c.539_545dup	ENSP00000340626.4:p.Tyr183HisfsTer5
ENST00000361166.8:c.788_794dup	ENSP00000354529.4:p.Tyr266HisfsTer5
ENST00000361452.8:c.665_671dup	ENSP00000354897.4:p.Tyr225HisfsTer5
ENST00000361676.8:c.662_668dup	ENSP00000355183.4:p.Tyr224HisfsTer5
ENST00000397789.3:c.788_794dup	ENSP00000380891.3:p.Tyr266HisfsTer5
ENST00000403435.5:c.788_794dup	ENSP00000384029.1:p.Tyr266HisfsTer5
ENST00000403999.7:c.788_794dup	ENSP00000384797.3:p.Tyr266HisfsTer5
ENST00000413209.6:c.447+19032_447+19038dup	ENSP00000409921.2:n.447+19032_447+19038du...
ENST00000432151.5:c.311_317dup	ENSP00000395885.1:p.Tyr107HisfsTer5
NM_000268.3:c.788_794dup , LRG_511t1:c.788_794dup	NP_000259.1:p.Tyr266HisfsTer5
NM_016418.5:c.788_794dup , LRG_511t2:c.788_794dup	NP_057502.2:p.Tyr266HisfsTer5
NM_181825.2:c.788_794dup	NP_861546.1:p.Tyr266HisfsTer5
NM_181828.2:c.662_668dup	NP_861966.1:p.Tyr224HisfsTer5
NM_181829.2:c.665_671dup	NP_861967.1:p.Tyr225HisfsTer5
NM_181830.2:c.539_545dup	NP_861968.1:p.Tyr183HisfsTer5
NM_181831.2:c.539_545dup	NP_861969.1:p.Tyr183HisfsTer5
NM_181832.2:c.788_794dup	NP_861970.1:p.Tyr266HisfsTer5
NM_181833.2:c.447+19032_447+19038dup	NP_861971.1:n.447+19032_447+19038dup
NR_156186.1:n.1347_1353dup
XM_017028809.2:c.674_680dup	XP_016884298.1:p.Tyr228HisfsTer5
XM_017028810.1:c.674_680dup	XP_016884299.1:p.Tyr228HisfsTer5
NM_000268.4:c.788_794dup MANE Select	NP_000259.1:p.Tyr266HisfsTer5
NM_181825.3:c.788_794dup	NP_861546.1:p.Tyr266HisfsTer5
NM_181828.3:c.662_668dup	NP_861966.1:p.Tyr224HisfsTer5
NM_181829.3:c.665_671dup	NP_861967.1:p.Tyr225HisfsTer5
NM_181830.3:c.539_545dup	NP_861968.1:p.Tyr183HisfsTer5
NM_181831.3:c.539_545dup	NP_861969.1:p.Tyr183HisfsTer5
NM_181832.3:c.788_794dup	NP_861970.1:p.Tyr266HisfsTer5
NR_156186.2:n.1270_1276dup
NM_181833.3:c.447+19032_447+19038dup	NP_861971.1:n.447+19032_447+19038dup