Canonical Allele Identifier: CA1024928919

Gene: NF2

Linked Data

• dbSNP Id: rs2067575247
• gnomAD v3: 22-29697136-CAT-C
• gnomAD v4: 22-29697136-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697137_29697138del , CM000684.2:g.29697137_29697138del	GRCh38
NC_000022.10:g.30093126_30093127del , CM000684.1:g.30093126_30093127del	GRCh37
NC_000022.9:g.28423126_28423127del	NCBI36
NG_009057.1:g.98582_98583del , LRG_511:g.98582_98583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2335_*2336del MANE Select	ENSP00000344666.5:n.*2335_*2336del
ENST00000672461.1:c.*502-124_*502-123del	ENSP00000500919.1:n.*502-124_*502-123del
ENST00000672896.1:c.*2395_*2396del	ENSP00000500117.1:n.*2395_*2396del
ENST00000338641.8:c.*2335_*2336del	ENSP00000344666.4:n.*2335_*2336del
ENST00000361452.8:c.*2395_*2396del	ENSP00000354897.4:n.*2395_*2396del
ENST00000413209.6:c.*2335_*2336del	ENSP00000409921.2:n.*2335_*2336del
NM_000268.3:c.*2335_*2336del , LRG_511t1:c.*2335_*2336del	NP_000259.1:n.*2335_*2336del
NM_016418.5:c.*2395_*2396del , LRG_511t2:c.*2395_*2396del	NP_057502.2:n.*2395_*2396del
NM_181828.2:c.*2395_*2396del	NP_861966.1:n.*2395_*2396del
NM_181829.2:c.*2395_*2396del	NP_861967.1:n.*2395_*2396del
NM_181830.2:c.*2395_*2396del	NP_861968.1:n.*2395_*2396del
NM_181832.2:c.*2410_*2411del	NP_861970.1:n.*2410_*2411del
NM_181833.2:c.*2335_*2336del	NP_861971.1:n.*2335_*2336del
NR_156186.1:n.4682_4683del
XM_017028810.1:c.*2395_*2396del	XP_016884299.1:n.*2395_*2396del
NM_000268.4:c.*2335_*2336del MANE Select	NP_000259.1:n.*2335_*2336del
NM_181828.3:c.*2395_*2396del	NP_861966.1:n.*2395_*2396del
NM_181829.3:c.*2395_*2396del	NP_861967.1:n.*2395_*2396del
NM_181830.3:c.*2395_*2396del	NP_861968.1:n.*2395_*2396del
NM_181832.3:c.*2410_*2411del	NP_861970.1:n.*2410_*2411del
NR_156186.2:n.4605_4606del
NM_181833.3:c.*2335_*2336del	NP_861971.1:n.*2335_*2336del