Canonical Allele Identifier: CA2656036045

Gene: NF2

Linked Data

• gnomAD v4: 22-29696813-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696813_29696814insGG , CM000684.2:g.29696813_29696814insGG	GRCh38
NC_000022.10:g.30092802_30092803insGG , CM000684.1:g.30092802_30092803insGG	GRCh37
NC_000022.9:g.28422802_28422803insGG	NCBI36
NG_009057.1:g.98258_98259insGG , LRG_511:g.98258_98259insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2011_*2012insGG MANE Select	ENSP00000344666.5:n.*2011_*2012insGG
ENST00000672461.1:c.*502-448_*502-447insGG	ENSP00000500919.1:n.*502-448_*502-447insG...
ENST00000672896.1:c.*2071_*2072insGG	ENSP00000500117.1:n.*2071_*2072insGG
ENST00000338641.8:c.*2011_*2012insGG	ENSP00000344666.4:n.*2011_*2012insGG
ENST00000361452.8:c.*2071_*2072insGG	ENSP00000354897.4:n.*2071_*2072insGG
ENST00000413209.6:c.*2011_*2012insGG	ENSP00000409921.2:n.*2011_*2012insGG
NM_000268.3:c.*2011_*2012insGG , LRG_511t1:c.*2011_*2012insGG	NP_000259.1:n.*2011_*2012insGG
NM_016418.5:c.*2071_*2072insGG , LRG_511t2:c.*2071_*2072insGG	NP_057502.2:n.*2071_*2072insGG
NM_181828.2:c.*2071_*2072insGG	NP_861966.1:n.*2071_*2072insGG
NM_181829.2:c.*2071_*2072insGG	NP_861967.1:n.*2071_*2072insGG
NM_181830.2:c.*2071_*2072insGG	NP_861968.1:n.*2071_*2072insGG
NM_181832.2:c.*2086_*2087insGG	NP_861970.1:n.*2086_*2087insGG
NM_181833.2:c.*2011_*2012insGG	NP_861971.1:n.*2011_*2012insGG
NR_156186.1:n.4358_4359insGG
XM_017028810.1:c.*2071_*2072insGG	XP_016884299.1:n.*2071_*2072insGG
NM_000268.4:c.*2011_*2012insGG MANE Select	NP_000259.1:n.*2011_*2012insGG
NM_181828.3:c.*2071_*2072insGG	NP_861966.1:n.*2071_*2072insGG
NM_181829.3:c.*2071_*2072insGG	NP_861967.1:n.*2071_*2072insGG
NM_181830.3:c.*2071_*2072insGG	NP_861968.1:n.*2071_*2072insGG
NM_181832.3:c.*2086_*2087insGG	NP_861970.1:n.*2086_*2087insGG
NR_156186.2:n.4281_4282insGG
NM_181833.3:c.*2011_*2012insGG	NP_861971.1:n.*2011_*2012insGG