Canonical Allele Identifier: CA2400686858

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681586_29681587delinsCA , CM000684.2:g.29681586_29681587delinsCA	GRCh38
NC_000022.10:g.30077575_30077576delinsCA , CM000684.1:g.30077575_30077576delinsCA	GRCh37
NC_000022.9:g.28407575_28407576delinsCA	NCBI36
NG_009057.1:g.83031_83032delinsCA , LRG_511:g.83031_83032delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1587_1588delinsCA	ENSP00000354529.6:p.His529=
ENST00000673312.2:c.*1216_*1217delinsCA	ENSP00000500186.2:n.*1216_*1217delinsCA
ENST00000338641.10:c.1722_1723delinsCA MANE Select	ENSP00000344666.5:p.His574=
ENST00000361166.9:c.1140_1141delinsCA	ENSP00000354529.5:p.His380=
ENST00000672461.1:c.1722_1723delinsCA	ENSP00000500919.1:p.His574=
ENST00000672805.1:c.*1604_*1605delinsCA	ENSP00000500295.1:n.*1604_*1605delinsCA
ENST00000672896.1:c.1722_1723delinsCA	ENSP00000500117.1:p.His574=
ENST00000673312.1:c.1741_1742delinsCA	ENSP00000500186.1:n.1741_1742delinsCA
ENST00000334961.11:c.1473_1474delinsCA	ENSP00000335652.7:p.His491=
ENST00000338641.8:c.1722_1723delinsCA	ENSP00000344666.4:p.His574=
ENST00000353887.8:c.1473_1474delinsCA	ENSP00000340626.4:p.His491=
ENST00000361166.8:c.1722_1723delinsCA	ENSP00000354529.4:p.His574=
ENST00000361452.8:c.1599_1600delinsCA	ENSP00000354897.4:p.His533=
ENST00000361676.8:c.1596_1597delinsCA	ENSP00000355183.4:p.His532=
ENST00000397789.3:c.1722_1723delinsCA	ENSP00000380891.3:p.His574=
ENST00000403435.5:c.1635_1636delinsCA	ENSP00000384029.1:p.His545=
ENST00000403999.7:c.1722_1723delinsCA	ENSP00000384797.3:p.His574=
ENST00000413209.6:c.448-13166_448-13165delinsCA	ENSP00000409921.2:n.448-13166_448-13165delinsCA
ENST00000432151.5:c.*93+3263_*93+3264delinsCA	ENSP00000395885.1:n.*93+3263_*93+3264delinsCA
NM_000268.3:c.1722_1723delinsCA , LRG_511t1:c.1722_1723delinsCA	NP_000259.1:p.His574=
NM_016418.5:c.1722_1723delinsCA , LRG_511t2:c.1722_1723delinsCA	NP_057502.2:p.His574=
NM_181825.2:c.1722_1723delinsCA	NP_861546.1:p.His574=
NM_181828.2:c.1596_1597delinsCA	NP_861966.1:p.His532=
NM_181829.2:c.1599_1600delinsCA	NP_861967.1:p.His533=
NM_181830.2:c.1473_1474delinsCA	NP_861968.1:p.His491=
NM_181831.2:c.1473_1474delinsCA	NP_861969.1:p.His491=
NM_181832.2:c.1722_1723delinsCA	NP_861970.1:p.His574=
NM_181833.2:c.448-13166_448-13165delinsCA	NP_861971.1:n.448-13166_448-13165delinsCA
NR_156186.1:n.2281_2282delinsCA
XM_017028809.2:c.1608_1609delinsCA	XP_016884298.1:p.His536=
XM_017028810.1:c.1608_1609delinsCA	XP_016884299.1:p.His536=
NM_000268.4:c.1722_1723delinsCA MANE Select	NP_000259.1:p.His574=
NM_181825.3:c.1722_1723delinsCA	NP_861546.1:p.His574=
NM_181828.3:c.1596_1597delinsCA	NP_861966.1:p.His532=
NM_181829.3:c.1599_1600delinsCA	NP_861967.1:p.His533=
NM_181830.3:c.1473_1474delinsCA	NP_861968.1:p.His491=
NM_181831.3:c.1473_1474delinsCA	NP_861969.1:p.His491=
NM_181832.3:c.1722_1723delinsCA	NP_861970.1:p.His574=
NR_156186.2:n.2204_2205delinsCA
NM_181833.3:c.448-13166_448-13165delinsCA	NP_861971.1:n.448-13166_448-13165delinsCA