Canonical Allele Identifier: CA2400692397

Gene: NF2

Linked Data

• dbSNP Id: rs2067508972

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695000_29695011del , CM000684.2:g.29695000_29695011del	GRCh38
NC_000022.10:g.30090989_30091000del , CM000684.1:g.30090989_30091000del	GRCh37
NC_000022.9:g.28420989_28421000del	NCBI36
NG_009057.1:g.96445_96456del , LRG_511:g.96445_96456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*198_*209del	ENSP00000354529.6:n.*198_*209del
ENST00000673312.2:c.*1480_*1491del	ENSP00000500186.2:n.*1480_*1491del
ENST00000338641.10:c.*198_*209del MANE Select	ENSP00000344666.5:n.*198_*209del
ENST00000361166.9:c.1404_1415del	ENSP00000354529.5:n.1404_1415del
ENST00000672461.1:c.*258_*269del	ENSP00000500919.1:n.*258_*269del
ENST00000672896.1:c.*258_*269del	ENSP00000500117.1:n.*258_*269del
ENST00000673312.1:c.2005_2016del	ENSP00000500186.1:n.2005_2016del
ENST00000338641.8:c.*198_*209del	ENSP00000344666.4:n.*198_*209del
ENST00000361452.8:c.*258_*269del	ENSP00000354897.4:n.*258_*269del
ENST00000413209.6:c.*198_*209del	ENSP00000409921.2:n.*198_*209del
NM_000268.3:c.*198_*209del , LRG_511t1:c.*198_*209del	NP_000259.1:n.*198_*209del
NM_016418.5:c.*258_*269del , LRG_511t2:c.*258_*269del	NP_057502.2:n.*258_*269del
NM_181828.2:c.*258_*269del	NP_861966.1:n.*258_*269del
NM_181829.2:c.*258_*269del	NP_861967.1:n.*258_*269del
NM_181830.2:c.*258_*269del	NP_861968.1:n.*258_*269del
NM_181832.2:c.*273_*284del	NP_861970.1:n.*273_*284del
NM_181833.2:c.*198_*209del	NP_861971.1:n.*198_*209del
NR_156186.1:n.2545_2556del
XM_017028809.2:c.*198_*209del	XP_016884298.1:n.*198_*209del
XM_017028810.1:c.*258_*269del	XP_016884299.1:n.*258_*269del
NM_000268.4:c.*198_*209del MANE Select	NP_000259.1:n.*198_*209del
NM_181828.3:c.*258_*269del	NP_861966.1:n.*258_*269del
NM_181829.3:c.*258_*269del	NP_861967.1:n.*258_*269del
NM_181830.3:c.*258_*269del	NP_861968.1:n.*258_*269del
NM_181832.3:c.*273_*284del	NP_861970.1:n.*273_*284del
NR_156186.2:n.2468_2479del
NM_181833.3:c.*198_*209del	NP_861971.1:n.*198_*209del