Canonical Allele Identifier: CA1024928124

Gene: NF2

Linked Data

• gnomAD v3: 22-29696795-G-GTTTT
• gnomAD v4: 22-29696795-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696806_29696809dup , CM000684.2:g.29696806_29696809dup	GRCh38
NC_000022.10:g.30092795_30092798dup , CM000684.1:g.30092795_30092798dup	GRCh37
NC_000022.9:g.28422795_28422798dup	NCBI36
NG_009057.1:g.98251_98254dup , LRG_511:g.98251_98254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2004_*2007dup MANE Select	ENSP00000344666.5:n.*2004_*2007dup
ENST00000672461.1:c.*502-455_*502-452dup	ENSP00000500919.1:n.*502-455_*502-452dup
ENST00000672896.1:c.*2064_*2067dup	ENSP00000500117.1:n.*2064_*2067dup
ENST00000338641.8:c.*2004_*2007dup	ENSP00000344666.4:n.*2004_*2007dup
ENST00000361452.8:c.*2064_*2067dup	ENSP00000354897.4:n.*2064_*2067dup
ENST00000413209.6:c.*2004_*2007dup	ENSP00000409921.2:n.*2004_*2007dup
NM_000268.3:c.*2004_*2007dup , LRG_511t1:c.*2004_*2007dup	NP_000259.1:n.*2004_*2007dup
NM_016418.5:c.*2064_*2067dup , LRG_511t2:c.*2064_*2067dup	NP_057502.2:n.*2064_*2067dup
NM_181828.2:c.*2064_*2067dup	NP_861966.1:n.*2064_*2067dup
NM_181829.2:c.*2064_*2067dup	NP_861967.1:n.*2064_*2067dup
NM_181830.2:c.*2064_*2067dup	NP_861968.1:n.*2064_*2067dup
NM_181832.2:c.*2079_*2082dup	NP_861970.1:n.*2079_*2082dup
NM_181833.2:c.*2004_*2007dup	NP_861971.1:n.*2004_*2007dup
NR_156186.1:n.4351_4354dup
XM_017028810.1:c.*2064_*2067dup	XP_016884299.1:n.*2064_*2067dup
NM_000268.4:c.*2004_*2007dup MANE Select	NP_000259.1:n.*2004_*2007dup
NM_181828.3:c.*2064_*2067dup	NP_861966.1:n.*2064_*2067dup
NM_181829.3:c.*2064_*2067dup	NP_861967.1:n.*2064_*2067dup
NM_181830.3:c.*2064_*2067dup	NP_861968.1:n.*2064_*2067dup
NM_181832.3:c.*2079_*2082dup	NP_861970.1:n.*2079_*2082dup
NR_156186.2:n.4274_4277dup
NM_181833.3:c.*2004_*2007dup	NP_861971.1:n.*2004_*2007dup