Canonical Allele Identifier: CA1024929637

Gene: NF2

Linked Data

• dbSNP Id: rs2067600587
• gnomAD v3: 22-29698002-A-AAAAGCCCAGAGACTGACAAC
• gnomAD v4: 22-29698002-A-AAAAGCCCAGAGACTGACAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698002_29698003insAAAGCCCAGAGACTGACAAC , CM000684.2:g.29698002_29698003insAAAGCCCAGAGACTGACAAC	GRCh38
NC_000022.10:g.30093991_30093992insAAAGCCCAGAGACTGACAAC , CM000684.1:g.30093991_30093992insAAAGCCCAGAGACTGACAAC	GRCh37
NC_000022.9:g.28423991_28423992insAAAGCCCAGAGACTGACAAC	NCBI36
NG_009057.1:g.99447_99448insAAAGCCCAGAGACTGACAAC , LRG_511:g.99447_99448insAAAGCCCAGAGACTGACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3200_*3201insAAAGCCCAGAGACTGACAAC MANE Select	ENSP00000344666.5:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
ENST00000672896.1:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	ENSP00000500117.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
ENST00000338641.8:c.*3200_*3201insAAAGCCCAGAGACTGACAAC	ENSP00000344666.4:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
ENST00000361452.8:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	ENSP00000354897.4:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
ENST00000413209.6:c.*3200_*3201insAAAGCCCAGAGACTGACAAC	ENSP00000409921.2:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
NM_000268.3:c.*3200_*3201insAAAGCCCAGAGACTGACAAC , LRG_511t1:c.*3200_*3201insAAAGCCCAGAGACTGACAAC	NP_000259.1:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
NM_016418.5:c.*3260_*3261insAAAGCCCAGAGACTGACAAC , LRG_511t2:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_057502.2:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181828.2:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861966.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181829.2:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861967.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181830.2:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861968.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181832.2:c.*3275_*3276insAAAGCCCAGAGACTGACAAC	NP_861970.1:n.*3275_*3276insAAAGCCCAGAGACTGACAAC
NM_181833.2:c.*3200_*3201insAAAGCCCAGAGACTGACAAC	NP_861971.1:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
NR_156186.1:n.5547_5548insAAAGCCCAGAGACTGACAAC
XM_017028810.1:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	XP_016884299.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_000268.4:c.*3200_*3201insAAAGCCCAGAGACTGACAAC MANE Select	NP_000259.1:n.*3200_*3201insAAAGCCCAGAGACTGACAAC
NM_181828.3:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861966.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181829.3:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861967.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181830.3:c.*3260_*3261insAAAGCCCAGAGACTGACAAC	NP_861968.1:n.*3260_*3261insAAAGCCCAGAGACTGACAAC
NM_181832.3:c.*3275_*3276insAAAGCCCAGAGACTGACAAC	NP_861970.1:n.*3275_*3276insAAAGCCCAGAGACTGACAAC
NR_156186.2:n.5470_5471insAAAGCCCAGAGACTGACAAC
NM_181833.3:c.*3200_*3201insAAAGCCCAGAGACTGACAAC	NP_861971.1:n.*3200_*3201insAAAGCCCAGAGACTGACAAC