Canonical Allele Identifier: CA752251043

Gene: NF2

Linked Data

• dbSNP Id: rs886057354
• gnomAD v3: 22-29696066-CTTTT-C
• gnomAD v4: 22-29696066-CTTTT-C
• MyVariant Identifiers: chr22:g.30092056_30092059del (hg19) ; chr22:g.29696067_29696070del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696086_29696089del , CM000684.2:g.29696086_29696089del	GRCh38
NC_000022.10:g.30092075_30092078del , CM000684.1:g.30092075_30092078del	GRCh37
NC_000022.9:g.28422075_28422078del	NCBI36
NG_009057.1:g.97531_97534del , LRG_511:g.97531_97534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1284_*1287del MANE Select	ENSP00000344666.5:n.*1284_*1287del
ENST00000672461.1:c.*501+843_*501+846del	ENSP00000500919.1:n.*501+843_*501+846del
ENST00000672896.1:c.*1344_*1347del	ENSP00000500117.1:n.*1344_*1347del
ENST00000338641.8:c.*1284_*1287del	ENSP00000344666.4:n.*1284_*1287del
ENST00000361452.8:c.*1344_*1347del	ENSP00000354897.4:n.*1344_*1347del
ENST00000413209.6:c.*1284_*1287del	ENSP00000409921.2:n.*1284_*1287del
NM_000268.3:c.*1284_*1287del , LRG_511t1:c.*1284_*1287del	NP_000259.1:n.*1284_*1287del
NM_016418.5:c.*1344_*1347del , LRG_511t2:c.*1344_*1347del	NP_057502.2:n.*1344_*1347del
NM_181828.2:c.*1344_*1347del	NP_861966.1:n.*1344_*1347del
NM_181829.2:c.*1344_*1347del	NP_861967.1:n.*1344_*1347del
NM_181830.2:c.*1344_*1347del	NP_861968.1:n.*1344_*1347del
NM_181832.2:c.*1359_*1362del	NP_861970.1:n.*1359_*1362del
NM_181833.2:c.*1284_*1287del	NP_861971.1:n.*1284_*1287del
NR_156186.1:n.3631_3634del
XM_017028810.1:c.*1344_*1347del	XP_016884299.1:n.*1344_*1347del
NM_000268.4:c.*1284_*1287del MANE Select	NP_000259.1:n.*1284_*1287del
NM_181828.3:c.*1344_*1347del	NP_861966.1:n.*1344_*1347del
NM_181829.3:c.*1344_*1347del	NP_861967.1:n.*1344_*1347del
NM_181830.3:c.*1344_*1347del	NP_861968.1:n.*1344_*1347del
NM_181832.3:c.*1359_*1362del	NP_861970.1:n.*1359_*1362del
NR_156186.2:n.3554_3557del
NM_181833.3:c.*1284_*1287del	NP_861971.1:n.*1284_*1287del