Canonical Allele Identifier: CA638997551

Gene: NF2

Linked Data

• dbSNP Id: rs886057365
• gnomAD v2: 22-30092784-G-GTT
• gnomAD v3: 22-29696795-G-GTT
• gnomAD v4: 22-29696795-G-GTT
• MyVariant Identifiers: chr22:g.30092785_30092786insTT (hg19) ; chr22:g.30092784_30092785insTT (hg19) ; chr22:g.29696796_29696797insTT (hg38) ; chr22:g.29696795_29696796insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696808_29696809dup , CM000684.2:g.29696808_29696809dup	GRCh38
NC_000022.10:g.30092797_30092798dup , CM000684.1:g.30092797_30092798dup	GRCh37
NC_000022.9:g.28422797_28422798dup	NCBI36
NG_009057.1:g.98253_98254dup , LRG_511:g.98253_98254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2006_*2007dup MANE Select	ENSP00000344666.5:n.*2006_*2007dup
ENST00000672461.1:c.*502-453_*502-452dup	ENSP00000500919.1:n.*502-453_*502-452dup
ENST00000672896.1:c.*2066_*2067dup	ENSP00000500117.1:n.*2066_*2067dup
ENST00000338641.8:c.*2006_*2007dup	ENSP00000344666.4:n.*2006_*2007dup
ENST00000361452.8:c.*2066_*2067dup	ENSP00000354897.4:n.*2066_*2067dup
ENST00000413209.6:c.*2006_*2007dup	ENSP00000409921.2:n.*2006_*2007dup
NM_000268.3:c.*2006_*2007dup , LRG_511t1:c.*2006_*2007dup	NP_000259.1:n.*2006_*2007dup
NM_016418.5:c.*2066_*2067dup , LRG_511t2:c.*2066_*2067dup	NP_057502.2:n.*2066_*2067dup
NM_181828.2:c.*2066_*2067dup	NP_861966.1:n.*2066_*2067dup
NM_181829.2:c.*2066_*2067dup	NP_861967.1:n.*2066_*2067dup
NM_181830.2:c.*2066_*2067dup	NP_861968.1:n.*2066_*2067dup
NM_181832.2:c.*2081_*2082dup	NP_861970.1:n.*2081_*2082dup
NM_181833.2:c.*2006_*2007dup	NP_861971.1:n.*2006_*2007dup
NR_156186.1:n.4353_4354dup
XM_017028810.1:c.*2066_*2067dup	XP_016884299.1:n.*2066_*2067dup
NM_000268.4:c.*2006_*2007dup MANE Select	NP_000259.1:n.*2006_*2007dup
NM_181828.3:c.*2066_*2067dup	NP_861966.1:n.*2066_*2067dup
NM_181829.3:c.*2066_*2067dup	NP_861967.1:n.*2066_*2067dup
NM_181830.3:c.*2066_*2067dup	NP_861968.1:n.*2066_*2067dup
NM_181832.3:c.*2081_*2082dup	NP_861970.1:n.*2081_*2082dup
NR_156186.2:n.4276_4277dup
NM_181833.3:c.*2006_*2007dup	NP_861971.1:n.*2006_*2007dup