Canonical Allele Identifier: CA645601196

Gene: NF2

Linked Data

• COSMIC: COSM22456

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678264_29678265del , CM000684.2:g.29678264_29678265del	GRCh38
NC_000022.10:g.30074253_30074254del , CM000684.1:g.30074253_30074254del	GRCh37
NC_000022.9:g.28404253_28404254del	NCBI36
NG_009057.1:g.79709_79710del , LRG_511:g.79709_79710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1380_1381del	ENSP00000354529.6:p.Ser461PhefsTer7
ENST00000673312.2:c.*1009_*1010del	ENSP00000500186.2:n.*1009_*1010del
ENST00000338641.10:c.1515_1516del MANE Select	ENSP00000344666.5:p.Ser506PhefsTer7
ENST00000361166.9:c.933_934del	ENSP00000354529.5:p.Ser312PhefsTer7
ENST00000672461.1:c.1515_1516del	ENSP00000500919.1:p.Ser506PhefsTer7
ENST00000672805.1:c.*1397_*1398del	ENSP00000500295.1:n.*1397_*1398del
ENST00000672896.1:c.1515_1516del	ENSP00000500117.1:p.Ser506PhefsTer7
ENST00000673312.1:c.1534_1535del	ENSP00000500186.1:n.1534_1535del
ENST00000334961.11:c.1266_1267del	ENSP00000335652.7:p.Ser423PhefsTer7
ENST00000338641.8:c.1515_1516del	ENSP00000344666.4:p.Ser506PhefsTer7
ENST00000353887.8:c.1266_1267del	ENSP00000340626.4:p.Ser423PhefsTer7
ENST00000361166.8:c.1515_1516del	ENSP00000354529.4:p.Ser506PhefsTer7
ENST00000361452.8:c.1392_1393del	ENSP00000354897.4:p.Ser465PhefsTer7
ENST00000361676.8:c.1389_1390del	ENSP00000355183.4:p.Ser464PhefsTer7
ENST00000397789.3:c.1515_1516del	ENSP00000380891.3:p.Ser506PhefsTer7
ENST00000403435.5:c.1428_1429del	ENSP00000384029.1:p.Ser477PhefsTer7
ENST00000403999.7:c.1515_1516del	ENSP00000384797.3:p.Ser506PhefsTer7
ENST00000413209.6:c.448-16488_448-16487del	ENSP00000409921.2:n.448-16488_448-16487del
ENST00000432151.5:c.*34_*35del	ENSP00000395885.1:n.*34_*35del
NM_000268.3:c.1515_1516del , LRG_511t1:c.1515_1516del	NP_000259.1:p.Ser506PhefsTer7
NM_016418.5:c.1515_1516del , LRG_511t2:c.1515_1516del	NP_057502.2:p.Ser506PhefsTer7
NM_181825.2:c.1515_1516del	NP_861546.1:p.Ser506PhefsTer7
NM_181828.2:c.1389_1390del	NP_861966.1:p.Ser464PhefsTer7
NM_181829.2:c.1392_1393del	NP_861967.1:p.Ser465PhefsTer7
NM_181830.2:c.1266_1267del	NP_861968.1:p.Ser423PhefsTer7
NM_181831.2:c.1266_1267del	NP_861969.1:p.Ser423PhefsTer7
NM_181832.2:c.1515_1516del	NP_861970.1:p.Ser506PhefsTer7
NM_181833.2:c.448-16488_448-16487del	NP_861971.1:n.448-16488_448-16487del
NR_156186.1:n.2074_2075del
XM_017028809.2:c.1401_1402del	XP_016884298.1:p.Ser468PhefsTer7
XM_017028810.1:c.1401_1402del	XP_016884299.1:p.Ser468PhefsTer7
NM_000268.4:c.1515_1516del MANE Select	NP_000259.1:p.Ser506PhefsTer7
NM_181825.3:c.1515_1516del	NP_861546.1:p.Ser506PhefsTer7
NM_181828.3:c.1389_1390del	NP_861966.1:p.Ser464PhefsTer7
NM_181829.3:c.1392_1393del	NP_861967.1:p.Ser465PhefsTer7
NM_181830.3:c.1266_1267del	NP_861968.1:p.Ser423PhefsTer7
NM_181831.3:c.1266_1267del	NP_861969.1:p.Ser423PhefsTer7
NM_181832.3:c.1515_1516del	NP_861970.1:p.Ser506PhefsTer7
NR_156186.2:n.1997_1998del
NM_181833.3:c.448-16488_448-16487del	NP_861971.1:n.448-16488_448-16487del