Canonical Allele Identifier: CA752251704

Gene: NF2

Linked Data

• dbSNP Id: rs1385477792
• gnomAD v3: 22-29696829-T-TC
• gnomAD v4: 22-29696829-T-TC
• MyVariant Identifiers: chr22:g.30092818_30092819insC (hg19) ; chr22:g.29696829_29696830insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696829_29696830insC , CM000684.2:g.29696829_29696830insC	GRCh38
NC_000022.10:g.30092818_30092819insC , CM000684.1:g.30092818_30092819insC	GRCh37
NC_000022.9:g.28422818_28422819insC	NCBI36
NG_009057.1:g.98274_98275insC , LRG_511:g.98274_98275insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2027_*2028insC MANE Select	ENSP00000344666.5:n.*2027_*2028insC
ENST00000672461.1:c.*502-432_*502-431insC	ENSP00000500919.1:n.*502-432_*502-431insC
ENST00000672896.1:c.*2087_*2088insC	ENSP00000500117.1:n.*2087_*2088insC
ENST00000338641.8:c.*2027_*2028insC	ENSP00000344666.4:n.*2027_*2028insC
ENST00000361452.8:c.*2087_*2088insC	ENSP00000354897.4:n.*2087_*2088insC
ENST00000413209.6:c.*2027_*2028insC	ENSP00000409921.2:n.*2027_*2028insC
NM_000268.3:c.*2027_*2028insC , LRG_511t1:c.*2027_*2028insC	NP_000259.1:n.*2027_*2028insC
NM_016418.5:c.*2087_*2088insC , LRG_511t2:c.*2087_*2088insC	NP_057502.2:n.*2087_*2088insC
NM_181828.2:c.*2087_*2088insC	NP_861966.1:n.*2087_*2088insC
NM_181829.2:c.*2087_*2088insC	NP_861967.1:n.*2087_*2088insC
NM_181830.2:c.*2087_*2088insC	NP_861968.1:n.*2087_*2088insC
NM_181832.2:c.*2102_*2103insC	NP_861970.1:n.*2102_*2103insC
NM_181833.2:c.*2027_*2028insC	NP_861971.1:n.*2027_*2028insC
NR_156186.1:n.4374_4375insC
XM_017028810.1:c.*2087_*2088insC	XP_016884299.1:n.*2087_*2088insC
NM_000268.4:c.*2027_*2028insC MANE Select	NP_000259.1:n.*2027_*2028insC
NM_181828.3:c.*2087_*2088insC	NP_861966.1:n.*2087_*2088insC
NM_181829.3:c.*2087_*2088insC	NP_861967.1:n.*2087_*2088insC
NM_181830.3:c.*2087_*2088insC	NP_861968.1:n.*2087_*2088insC
NM_181832.3:c.*2102_*2103insC	NP_861970.1:n.*2102_*2103insC
NR_156186.2:n.4297_4298insC
NM_181833.3:c.*2027_*2028insC	NP_861971.1:n.*2027_*2028insC