Canonical Allele Identifier: CA752251950

Gene: NF2

Linked Data

• dbSNP Id: rs1168445765
• MyVariant Identifiers: chr22:g.30093109_30093110del (hg19) ; chr22:g.29697120_29697121del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697122_29697123del , CM000684.2:g.29697122_29697123del	GRCh38
NC_000022.10:g.30093111_30093112del , CM000684.1:g.30093111_30093112del	GRCh37
NC_000022.9:g.28423111_28423112del	NCBI36
NG_009057.1:g.98567_98568del , LRG_511:g.98567_98568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2320_*2321del MANE Select	ENSP00000344666.5:n.*2320_*2321del
ENST00000672461.1:c.*502-139_*502-138del	ENSP00000500919.1:n.*502-139_*502-138del
ENST00000672896.1:c.*2380_*2381del	ENSP00000500117.1:n.*2380_*2381del
ENST00000338641.8:c.*2320_*2321del	ENSP00000344666.4:n.*2320_*2321del
ENST00000361452.8:c.*2380_*2381del	ENSP00000354897.4:n.*2380_*2381del
ENST00000413209.6:c.*2320_*2321del	ENSP00000409921.2:n.*2320_*2321del
NM_000268.3:c.*2320_*2321del , LRG_511t1:c.*2320_*2321del	NP_000259.1:n.*2320_*2321del
NM_016418.5:c.*2380_*2381del , LRG_511t2:c.*2380_*2381del	NP_057502.2:n.*2380_*2381del
NM_181828.2:c.*2380_*2381del	NP_861966.1:n.*2380_*2381del
NM_181829.2:c.*2380_*2381del	NP_861967.1:n.*2380_*2381del
NM_181830.2:c.*2380_*2381del	NP_861968.1:n.*2380_*2381del
NM_181832.2:c.*2395_*2396del	NP_861970.1:n.*2395_*2396del
NM_181833.2:c.*2320_*2321del	NP_861971.1:n.*2320_*2321del
NR_156186.1:n.4667_4668del
XM_017028810.1:c.*2380_*2381del	XP_016884299.1:n.*2380_*2381del
NM_000268.4:c.*2320_*2321del MANE Select	NP_000259.1:n.*2320_*2321del
NM_181828.3:c.*2380_*2381del	NP_861966.1:n.*2380_*2381del
NM_181829.3:c.*2380_*2381del	NP_861967.1:n.*2380_*2381del
NM_181830.3:c.*2380_*2381del	NP_861968.1:n.*2380_*2381del
NM_181832.3:c.*2395_*2396del	NP_861970.1:n.*2395_*2396del
NR_156186.2:n.4590_4591del
NM_181833.3:c.*2320_*2321del	NP_861971.1:n.*2320_*2321del