Canonical Allele Identifier: CA323129421

Gene: NF2

Linked Data

• dbSNP Id: rs200967076
• gnomAD v3: 22-29696819-TTTCTG-T
• gnomAD v4: 22-29696819-TTTCTG-T
• MyVariant Identifiers: chr22:g.30092809_30092813del (hg19) ; chr22:g.29696820_29696824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696822_29696826del , CM000684.2:g.29696822_29696826del	GRCh38
NC_000022.10:g.30092811_30092815del , CM000684.1:g.30092811_30092815del	GRCh37
NC_000022.9:g.28422811_28422815del	NCBI36
NG_009057.1:g.98267_98271del , LRG_511:g.98267_98271del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2020_*2024del MANE Select	ENSP00000344666.5:n.*2020_*2024del
ENST00000672461.1:c.*502-439_*502-435del	ENSP00000500919.1:n.*502-439_*502-435del
ENST00000672896.1:c.*2080_*2084del	ENSP00000500117.1:n.*2080_*2084del
ENST00000338641.8:c.*2020_*2024del	ENSP00000344666.4:n.*2020_*2024del
ENST00000361452.8:c.*2080_*2084del	ENSP00000354897.4:n.*2080_*2084del
ENST00000413209.6:c.*2020_*2024del	ENSP00000409921.2:n.*2020_*2024del
NM_000268.3:c.*2020_*2024del , LRG_511t1:c.*2020_*2024del	NP_000259.1:n.*2020_*2024del
NM_016418.5:c.*2080_*2084del , LRG_511t2:c.*2080_*2084del	NP_057502.2:n.*2080_*2084del
NM_181828.2:c.*2080_*2084del	NP_861966.1:n.*2080_*2084del
NM_181829.2:c.*2080_*2084del	NP_861967.1:n.*2080_*2084del
NM_181830.2:c.*2080_*2084del	NP_861968.1:n.*2080_*2084del
NM_181832.2:c.*2095_*2099del	NP_861970.1:n.*2095_*2099del
NM_181833.2:c.*2020_*2024del	NP_861971.1:n.*2020_*2024del
NR_156186.1:n.4367_4371del
XM_017028810.1:c.*2080_*2084del	XP_016884299.1:n.*2080_*2084del
NM_000268.4:c.*2020_*2024del MANE Select	NP_000259.1:n.*2020_*2024del
NM_181828.3:c.*2080_*2084del	NP_861966.1:n.*2080_*2084del
NM_181829.3:c.*2080_*2084del	NP_861967.1:n.*2080_*2084del
NM_181830.3:c.*2080_*2084del	NP_861968.1:n.*2080_*2084del
NM_181832.3:c.*2095_*2099del	NP_861970.1:n.*2095_*2099del
NR_156186.2:n.4290_4294del
NM_181833.3:c.*2020_*2024del	NP_861971.1:n.*2020_*2024del