Canonical Allele Identifier: CA658799540

Gene: NF2

Linked Data

• dbSNP Id: rs1555988797
• gnomAD v4: 22-29642294-AAAG-A
• MyVariant Identifiers: chr22:g.30038289_30038291del (hg19) ; chr22:g.29642300_29642302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29642300_29642302del , CM000684.2:g.29642300_29642302del	GRCh38
NC_000022.10:g.30038289_30038291del , CM000684.1:g.30038289_30038291del	GRCh37
NC_000022.9:g.28368289_28368291del	NCBI36
NG_009057.1:g.43745_43747del , LRG_511:g.43745_43747del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.447+15_447+17del	ENSP00000354529.6:n.447+15_447+17del
ENST00000673312.2:c.447+15_447+17del	ENSP00000500186.2:n.447+15_447+17del
ENST00000338641.10:c.447+15_447+17del MANE Select	ENSP00000344666.5:n.447+15_447+17del
ENST00000672461.1:c.447+15_447+17del	ENSP00000500919.1:n.447+15_447+17del
ENST00000672805.1:c.*329+15_*329+17del	ENSP00000500295.1:n.*329+15_*329+17del
ENST00000672896.1:c.447+15_447+17del	ENSP00000500117.1:n.447+15_447+17del
ENST00000673312.1:c.360+15_360+17del	ENSP00000500186.1:n.360+15_360+17del
ENST00000334961.11:c.198+15_198+17del	ENSP00000335652.7:n.198+15_198+17del
ENST00000338641.8:c.447+15_447+17del	ENSP00000344666.4:n.447+15_447+17del
ENST00000353887.8:c.198+15_198+17del	ENSP00000340626.4:n.198+15_198+17del
ENST00000361166.8:c.447+15_447+17del	ENSP00000354529.4:n.447+15_447+17del
ENST00000361452.8:c.324+15_324+17del	ENSP00000354897.4:n.324+15_324+17del
ENST00000361676.8:c.321+15_321+17del	ENSP00000355183.4:n.321+15_321+17del
ENST00000397789.3:c.447+15_447+17del	ENSP00000380891.3:n.447+15_447+17del
ENST00000403435.5:c.447+15_447+17del	ENSP00000384029.1:n.447+15_447+17del
ENST00000403999.7:c.447+15_447+17del	ENSP00000384797.3:n.447+15_447+17del
ENST00000413209.6:c.447+15_447+17del	ENSP00000409921.2:n.447+15_447+17del
ENST00000432151.5:c.198+15_198+17del	ENSP00000395885.1:n.198+15_198+17del
NM_000268.3:c.447+15_447+17del , LRG_511t1:c.447+15_447+17del	NP_000259.1:n.447+15_447+17del
NM_016418.5:c.447+15_447+17del , LRG_511t2:c.447+15_447+17del	NP_057502.2:n.447+15_447+17del
NM_181825.2:c.447+15_447+17del	NP_861546.1:n.447+15_447+17del
NM_181828.2:c.321+15_321+17del	NP_861966.1:n.321+15_321+17del
NM_181829.2:c.324+15_324+17del	NP_861967.1:n.324+15_324+17del
NM_181830.2:c.198+15_198+17del	NP_861968.1:n.198+15_198+17del
NM_181831.2:c.198+15_198+17del	NP_861969.1:n.198+15_198+17del
NM_181832.2:c.447+15_447+17del	NP_861970.1:n.447+15_447+17del
NM_181833.2:c.447+15_447+17del	NP_861971.1:n.447+15_447+17del
NR_156186.1:n.1006+15_1006+17del
XM_017028809.2:c.333+15_333+17del	XP_016884298.1:n.333+15_333+17del
XM_017028810.1:c.333+15_333+17del	XP_016884299.1:n.333+15_333+17del
NM_000268.4:c.447+15_447+17del MANE Select	NP_000259.1:n.447+15_447+17del
NM_181825.3:c.447+15_447+17del	NP_861546.1:n.447+15_447+17del
NM_181828.3:c.321+15_321+17del	NP_861966.1:n.321+15_321+17del
NM_181829.3:c.324+15_324+17del	NP_861967.1:n.324+15_324+17del
NM_181830.3:c.198+15_198+17del	NP_861968.1:n.198+15_198+17del
NM_181831.3:c.198+15_198+17del	NP_861969.1:n.198+15_198+17del
NM_181832.3:c.447+15_447+17del	NP_861970.1:n.447+15_447+17del
NR_156186.2:n.929+15_929+17del
NM_181833.3:c.447+15_447+17del	NP_861971.1:n.447+15_447+17del