Canonical Allele Identifier: CA1024927728

Gene: NF2

Linked Data

• dbSNP Id: rs2067549972
• gnomAD v3: 22-29696220-TGC-T
• gnomAD v4: 22-29696220-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696221_29696222del , CM000684.2:g.29696221_29696222del	GRCh38
NC_000022.10:g.30092210_30092211del , CM000684.1:g.30092210_30092211del	GRCh37
NC_000022.9:g.28422210_28422211del	NCBI36
NG_009057.1:g.97666_97667del , LRG_511:g.97666_97667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1419_*1420del MANE Select	ENSP00000344666.5:n.*1419_*1420del
ENST00000672461.1:c.*501+978_*501+979del	ENSP00000500919.1:n.*501+978_*501+979del
ENST00000672896.1:c.*1479_*1480del	ENSP00000500117.1:n.*1479_*1480del
ENST00000338641.8:c.*1419_*1420del	ENSP00000344666.4:n.*1419_*1420del
ENST00000361452.8:c.*1479_*1480del	ENSP00000354897.4:n.*1479_*1480del
ENST00000413209.6:c.*1419_*1420del	ENSP00000409921.2:n.*1419_*1420del
NM_000268.3:c.*1419_*1420del , LRG_511t1:c.*1419_*1420del	NP_000259.1:n.*1419_*1420del
NM_016418.5:c.*1479_*1480del , LRG_511t2:c.*1479_*1480del	NP_057502.2:n.*1479_*1480del
NM_181828.2:c.*1479_*1480del	NP_861966.1:n.*1479_*1480del
NM_181829.2:c.*1479_*1480del	NP_861967.1:n.*1479_*1480del
NM_181830.2:c.*1479_*1480del	NP_861968.1:n.*1479_*1480del
NM_181832.2:c.*1494_*1495del	NP_861970.1:n.*1494_*1495del
NM_181833.2:c.*1419_*1420del	NP_861971.1:n.*1419_*1420del
NR_156186.1:n.3766_3767del
XM_017028810.1:c.*1479_*1480del	XP_016884299.1:n.*1479_*1480del
NM_000268.4:c.*1419_*1420del MANE Select	NP_000259.1:n.*1419_*1420del
NM_181828.3:c.*1479_*1480del	NP_861966.1:n.*1479_*1480del
NM_181829.3:c.*1479_*1480del	NP_861967.1:n.*1479_*1480del
NM_181830.3:c.*1479_*1480del	NP_861968.1:n.*1479_*1480del
NM_181832.3:c.*1494_*1495del	NP_861970.1:n.*1494_*1495del
NR_156186.2:n.3689_3690del
NM_181833.3:c.*1419_*1420del	NP_861971.1:n.*1419_*1420del