Canonical Allele Identifier: CA2656036034

Gene: NF2

Linked Data

• gnomAD v4: 22-29696796-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696796_29696797insG , CM000684.2:g.29696796_29696797insG	GRCh38
NC_000022.10:g.30092785_30092786insG , CM000684.1:g.30092785_30092786insG	GRCh37
NC_000022.9:g.28422785_28422786insG	NCBI36
NG_009057.1:g.98241_98242insG , LRG_511:g.98241_98242insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1994_*1995insG MANE Select	ENSP00000344666.5:n.*1994_*1995insG
ENST00000672461.1:c.*502-465_*502-464insG	ENSP00000500919.1:n.*502-465_*502-464insG
ENST00000672896.1:c.*2054_*2055insG	ENSP00000500117.1:n.*2054_*2055insG
ENST00000338641.8:c.*1994_*1995insG	ENSP00000344666.4:n.*1994_*1995insG
ENST00000361452.8:c.*2054_*2055insG	ENSP00000354897.4:n.*2054_*2055insG
ENST00000413209.6:c.*1994_*1995insG	ENSP00000409921.2:n.*1994_*1995insG
NM_000268.3:c.*1994_*1995insG , LRG_511t1:c.*1994_*1995insG	NP_000259.1:n.*1994_*1995insG
NM_016418.5:c.*2054_*2055insG , LRG_511t2:c.*2054_*2055insG	NP_057502.2:n.*2054_*2055insG
NM_181828.2:c.*2054_*2055insG	NP_861966.1:n.*2054_*2055insG
NM_181829.2:c.*2054_*2055insG	NP_861967.1:n.*2054_*2055insG
NM_181830.2:c.*2054_*2055insG	NP_861968.1:n.*2054_*2055insG
NM_181832.2:c.*2069_*2070insG	NP_861970.1:n.*2069_*2070insG
NM_181833.2:c.*1994_*1995insG	NP_861971.1:n.*1994_*1995insG
NR_156186.1:n.4341_4342insG
XM_017028810.1:c.*2054_*2055insG	XP_016884299.1:n.*2054_*2055insG
NM_000268.4:c.*1994_*1995insG MANE Select	NP_000259.1:n.*1994_*1995insG
NM_181828.3:c.*2054_*2055insG	NP_861966.1:n.*2054_*2055insG
NM_181829.3:c.*2054_*2055insG	NP_861967.1:n.*2054_*2055insG
NM_181830.3:c.*2054_*2055insG	NP_861968.1:n.*2054_*2055insG
NM_181832.3:c.*2069_*2070insG	NP_861970.1:n.*2069_*2070insG
NR_156186.2:n.4264_4265insG
NM_181833.3:c.*1994_*1995insG	NP_861971.1:n.*1994_*1995insG