Canonical Allele Identifier: CA1024927578

Gene: NF2

Linked Data

• dbSNP Id: rs2067543763
• gnomAD v3: 22-29696073-T-TC
• gnomAD v4: 22-29696073-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696073_29696074insC , CM000684.2:g.29696073_29696074insC	GRCh38
NC_000022.10:g.30092062_30092063insC , CM000684.1:g.30092062_30092063insC	GRCh37
NC_000022.9:g.28422062_28422063insC	NCBI36
NG_009057.1:g.97518_97519insC , LRG_511:g.97518_97519insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1271_*1272insC MANE Select	ENSP00000344666.5:n.*1271_*1272insC
ENST00000672461.1:c.*501+830_*501+831insC	ENSP00000500919.1:n.*501+830_*501+831insC
ENST00000672896.1:c.*1331_*1332insC	ENSP00000500117.1:n.*1331_*1332insC
ENST00000338641.8:c.*1271_*1272insC	ENSP00000344666.4:n.*1271_*1272insC
ENST00000361452.8:c.*1331_*1332insC	ENSP00000354897.4:n.*1331_*1332insC
ENST00000413209.6:c.*1271_*1272insC	ENSP00000409921.2:n.*1271_*1272insC
NM_000268.3:c.*1271_*1272insC , LRG_511t1:c.*1271_*1272insC	NP_000259.1:n.*1271_*1272insC
NM_016418.5:c.*1331_*1332insC , LRG_511t2:c.*1331_*1332insC	NP_057502.2:n.*1331_*1332insC
NM_181828.2:c.*1331_*1332insC	NP_861966.1:n.*1331_*1332insC
NM_181829.2:c.*1331_*1332insC	NP_861967.1:n.*1331_*1332insC
NM_181830.2:c.*1331_*1332insC	NP_861968.1:n.*1331_*1332insC
NM_181832.2:c.*1346_*1347insC	NP_861970.1:n.*1346_*1347insC
NM_181833.2:c.*1271_*1272insC	NP_861971.1:n.*1271_*1272insC
NR_156186.1:n.3618_3619insC
XM_017028810.1:c.*1331_*1332insC	XP_016884299.1:n.*1331_*1332insC
NM_000268.4:c.*1271_*1272insC MANE Select	NP_000259.1:n.*1271_*1272insC
NM_181828.3:c.*1331_*1332insC	NP_861966.1:n.*1331_*1332insC
NM_181829.3:c.*1331_*1332insC	NP_861967.1:n.*1331_*1332insC
NM_181830.3:c.*1331_*1332insC	NP_861968.1:n.*1331_*1332insC
NM_181832.3:c.*1346_*1347insC	NP_861970.1:n.*1346_*1347insC
NR_156186.2:n.3541_3542insC
NM_181833.3:c.*1271_*1272insC	NP_861971.1:n.*1271_*1272insC