Canonical Allele Identifier: CA323129413

Gene: NF2

Linked Data

• dbSNP Id: rs1556009778
• gnomAD v3: 22-29696809-T-TC
• gnomAD v4: 22-29696809-T-TC
• MyVariant Identifiers: chr22:g.30092798_30092799insC (hg19) ; chr22:g.29696809_29696810insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696810dup , CM000684.2:g.29696810dup	GRCh38
NC_000022.10:g.30092799dup , CM000684.1:g.30092799dup	GRCh37
NC_000022.9:g.28422799dup	NCBI36
NG_009057.1:g.98255dup , LRG_511:g.98255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2008dup MANE Select	ENSP00000344666.5:n.*2008dup
ENST00000672461.1:c.*502-451dup	ENSP00000500919.1:n.*502-451dup
ENST00000672896.1:c.*2068dup	ENSP00000500117.1:n.*2068dup
ENST00000338641.8:c.*2008dup	ENSP00000344666.4:n.*2008dup
ENST00000361452.8:c.*2068dup	ENSP00000354897.4:n.*2068dup
ENST00000413209.6:c.*2008dup	ENSP00000409921.2:n.*2008dup
NM_000268.3:c.*2008dup , LRG_511t1:c.*2008dup	NP_000259.1:n.*2008dup
NM_016418.5:c.*2068dup , LRG_511t2:c.*2068dup	NP_057502.2:n.*2068dup
NM_181828.2:c.*2068dup	NP_861966.1:n.*2068dup
NM_181829.2:c.*2068dup	NP_861967.1:n.*2068dup
NM_181830.2:c.*2068dup	NP_861968.1:n.*2068dup
NM_181832.2:c.*2083dup	NP_861970.1:n.*2083dup
NM_181833.2:c.*2008dup	NP_861971.1:n.*2008dup
NR_156186.1:n.4355dup
XM_017028810.1:c.*2068dup	XP_016884299.1:n.*2068dup
NM_000268.4:c.*2008dup MANE Select	NP_000259.1:n.*2008dup
NM_181828.3:c.*2068dup	NP_861966.1:n.*2068dup
NM_181829.3:c.*2068dup	NP_861967.1:n.*2068dup
NM_181830.3:c.*2068dup	NP_861968.1:n.*2068dup
NM_181832.3:c.*2083dup	NP_861970.1:n.*2083dup
NR_156186.2:n.4278dup
NM_181833.3:c.*2008dup	NP_861971.1:n.*2008dup