Canonical Allele Identifier: CA2656033666

Gene: NF2

Linked Data

• gnomAD v4: 22-29695330-CCCAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695332_29695337del , CM000684.2:g.29695332_29695337del	GRCh38
NC_000022.10:g.30091321_30091326del , CM000684.1:g.30091321_30091326del	GRCh37
NC_000022.9:g.28421321_28421326del	NCBI36
NG_009057.1:g.96777_96782del , LRG_511:g.96777_96782del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*530_*535del MANE Select	ENSP00000344666.5:n.*530_*535del
ENST00000672461.1:c.*501+89_*501+94del	ENSP00000500919.1:n.*501+89_*501+94del
ENST00000672896.1:c.*590_*595del	ENSP00000500117.1:n.*590_*595del
ENST00000338641.8:c.*530_*535del	ENSP00000344666.4:n.*530_*535del
ENST00000361452.8:c.*590_*595del	ENSP00000354897.4:n.*590_*595del
ENST00000413209.6:c.*530_*535del	ENSP00000409921.2:n.*530_*535del
NM_000268.3:c.*530_*535del , LRG_511t1:c.*530_*535del	NP_000259.1:n.*530_*535del
NM_016418.5:c.*590_*595del , LRG_511t2:c.*590_*595del	NP_057502.2:n.*590_*595del
NM_181828.2:c.*590_*595del	NP_861966.1:n.*590_*595del
NM_181829.2:c.*590_*595del	NP_861967.1:n.*590_*595del
NM_181830.2:c.*590_*595del	NP_861968.1:n.*590_*595del
NM_181832.2:c.*605_*610del	NP_861970.1:n.*605_*610del
NM_181833.2:c.*530_*535del	NP_861971.1:n.*530_*535del
NR_156186.1:n.2877_2882del
XM_017028810.1:c.*590_*595del	XP_016884299.1:n.*590_*595del
NM_000268.4:c.*530_*535del MANE Select	NP_000259.1:n.*530_*535del
NM_181828.3:c.*590_*595del	NP_861966.1:n.*590_*595del
NM_181829.3:c.*590_*595del	NP_861967.1:n.*590_*595del
NM_181830.3:c.*590_*595del	NP_861968.1:n.*590_*595del
NM_181832.3:c.*605_*610del	NP_861970.1:n.*605_*610del
NR_156186.2:n.2800_2805del
NM_181833.3:c.*530_*535del	NP_861971.1:n.*530_*535del