Canonical Allele Identifier: CA752251932

Gene: NF2

Linked Data

• dbSNP Id: rs1301478198
• gnomAD v3: 22-29697109-GCCCGGTCT-G
• gnomAD v4: 22-29697109-GCCCGGTCT-G
• MyVariant Identifiers: chr22:g.30093099_30093106del (hg19) ; chr22:g.29697110_29697117del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697111_29697118del , CM000684.2:g.29697111_29697118del	GRCh38
NC_000022.10:g.30093100_30093107del , CM000684.1:g.30093100_30093107del	GRCh37
NC_000022.9:g.28423100_28423107del	NCBI36
NG_009057.1:g.98556_98563del , LRG_511:g.98556_98563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2309_*2316del MANE Select	ENSP00000344666.5:n.*2309_*2316del
ENST00000672461.1:c.*502-150_*502-143del	ENSP00000500919.1:n.*502-150_*502-143del
ENST00000672896.1:c.*2369_*2376del	ENSP00000500117.1:n.*2369_*2376del
ENST00000338641.8:c.*2309_*2316del	ENSP00000344666.4:n.*2309_*2316del
ENST00000361452.8:c.*2369_*2376del	ENSP00000354897.4:n.*2369_*2376del
ENST00000413209.6:c.*2309_*2316del	ENSP00000409921.2:n.*2309_*2316del
NM_000268.3:c.*2309_*2316del , LRG_511t1:c.*2309_*2316del	NP_000259.1:n.*2309_*2316del
NM_016418.5:c.*2369_*2376del , LRG_511t2:c.*2369_*2376del	NP_057502.2:n.*2369_*2376del
NM_181828.2:c.*2369_*2376del	NP_861966.1:n.*2369_*2376del
NM_181829.2:c.*2369_*2376del	NP_861967.1:n.*2369_*2376del
NM_181830.2:c.*2369_*2376del	NP_861968.1:n.*2369_*2376del
NM_181832.2:c.*2384_*2391del	NP_861970.1:n.*2384_*2391del
NM_181833.2:c.*2309_*2316del	NP_861971.1:n.*2309_*2316del
NR_156186.1:n.4656_4663del
XM_017028810.1:c.*2369_*2376del	XP_016884299.1:n.*2369_*2376del
NM_000268.4:c.*2309_*2316del MANE Select	NP_000259.1:n.*2309_*2316del
NM_181828.3:c.*2369_*2376del	NP_861966.1:n.*2369_*2376del
NM_181829.3:c.*2369_*2376del	NP_861967.1:n.*2369_*2376del
NM_181830.3:c.*2369_*2376del	NP_861968.1:n.*2369_*2376del
NM_181832.3:c.*2384_*2391del	NP_861970.1:n.*2384_*2391del
NR_156186.2:n.4579_4586del
NM_181833.3:c.*2309_*2316del	NP_861971.1:n.*2309_*2316del