Canonical Allele Identifier: CA1024926933

Gene: NF2

Linked Data

• dbSNP Id: rs2067520331
• gnomAD v3: 22-29695332-CAG-C
• gnomAD v4: 22-29695332-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695335_29695336del , CM000684.2:g.29695335_29695336del	GRCh38
NC_000022.10:g.30091324_30091325del , CM000684.1:g.30091324_30091325del	GRCh37
NC_000022.9:g.28421324_28421325del	NCBI36
NG_009057.1:g.96780_96781del , LRG_511:g.96780_96781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*533_*534del MANE Select	ENSP00000344666.5:n.*533_*534del
ENST00000672461.1:c.*501+92_*501+93del	ENSP00000500919.1:n.*501+92_*501+93del
ENST00000672896.1:c.*593_*594del	ENSP00000500117.1:n.*593_*594del
ENST00000338641.8:c.*533_*534del	ENSP00000344666.4:n.*533_*534del
ENST00000361452.8:c.*593_*594del	ENSP00000354897.4:n.*593_*594del
ENST00000413209.6:c.*533_*534del	ENSP00000409921.2:n.*533_*534del
NM_000268.3:c.*533_*534del , LRG_511t1:c.*533_*534del	NP_000259.1:n.*533_*534del
NM_016418.5:c.*593_*594del , LRG_511t2:c.*593_*594del	NP_057502.2:n.*593_*594del
NM_181828.2:c.*593_*594del	NP_861966.1:n.*593_*594del
NM_181829.2:c.*593_*594del	NP_861967.1:n.*593_*594del
NM_181830.2:c.*593_*594del	NP_861968.1:n.*593_*594del
NM_181832.2:c.*608_*609del	NP_861970.1:n.*608_*609del
NM_181833.2:c.*533_*534del	NP_861971.1:n.*533_*534del
NR_156186.1:n.2880_2881del
XM_017028810.1:c.*593_*594del	XP_016884299.1:n.*593_*594del
NM_000268.4:c.*533_*534del MANE Select	NP_000259.1:n.*533_*534del
NM_181828.3:c.*593_*594del	NP_861966.1:n.*593_*594del
NM_181829.3:c.*593_*594del	NP_861967.1:n.*593_*594del
NM_181830.3:c.*593_*594del	NP_861968.1:n.*593_*594del
NM_181832.3:c.*608_*609del	NP_861970.1:n.*608_*609del
NR_156186.2:n.2803_2804del
NM_181833.3:c.*533_*534del	NP_861971.1:n.*533_*534del