Canonical Allele Identifier: CA2400693971

Gene: NF2

Linked Data

• dbSNP Id: rs1294542310
• gnomAD v4: 22-29698269-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698271_29698272del , CM000684.2:g.29698271_29698272del	GRCh38
NC_000022.10:g.30094260_30094261del , CM000684.1:g.30094260_30094261del	GRCh37
NC_000022.9:g.28424260_28424261del	NCBI36
NG_009057.1:g.99716_99717del , LRG_511:g.99716_99717del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3469_*3470del MANE Select	ENSP00000344666.5:n.*3469_*3470del
ENST00000672896.1:c.*3529_*3530del	ENSP00000500117.1:n.*3529_*3530del
ENST00000338641.8:c.*3469_*3470del	ENSP00000344666.4:n.*3469_*3470del
ENST00000361452.8:c.*3529_*3530del	ENSP00000354897.4:n.*3529_*3530del
ENST00000413209.6:c.*3469_*3470del	ENSP00000409921.2:n.*3469_*3470del
NM_000268.3:c.*3469_*3470del , LRG_511t1:c.*3469_*3470del	NP_000259.1:n.*3469_*3470del
NM_016418.5:c.*3529_*3530del , LRG_511t2:c.*3529_*3530del	NP_057502.2:n.*3529_*3530del
NM_181828.2:c.*3529_*3530del	NP_861966.1:n.*3529_*3530del
NM_181829.2:c.*3529_*3530del	NP_861967.1:n.*3529_*3530del
NM_181830.2:c.*3529_*3530del	NP_861968.1:n.*3529_*3530del
NM_181832.2:c.*3544_*3545del	NP_861970.1:n.*3544_*3545del
NM_181833.2:c.*3469_*3470del	NP_861971.1:n.*3469_*3470del
NR_156186.1:n.5816_5817del
XM_017028810.1:c.*3529_*3530del	XP_016884299.1:n.*3529_*3530del
NM_000268.4:c.*3469_*3470del MANE Select	NP_000259.1:n.*3469_*3470del
NM_181828.3:c.*3529_*3530del	NP_861966.1:n.*3529_*3530del
NM_181829.3:c.*3529_*3530del	NP_861967.1:n.*3529_*3530del
NM_181830.3:c.*3529_*3530del	NP_861968.1:n.*3529_*3530del
NM_181832.3:c.*3544_*3545del	NP_861970.1:n.*3544_*3545del
NR_156186.2:n.5739_5740del
NM_181833.3:c.*3469_*3470del	NP_861971.1:n.*3469_*3470del