Canonical Allele Identifier: CA2656033196

Gene: NF2

Linked Data

• gnomAD v4: 22-29695022-CCTGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695025_29695030del , CM000684.2:g.29695025_29695030del	GRCh38
NC_000022.10:g.30091014_30091019del , CM000684.1:g.30091014_30091019del	GRCh37
NC_000022.9:g.28421014_28421019del	NCBI36
NG_009057.1:g.96470_96475del , LRG_511:g.96470_96475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*223_*228del	ENSP00000354529.6:n.*223_*228del
ENST00000673312.2:c.*1505_*1510del	ENSP00000500186.2:n.*1505_*1510del
ENST00000338641.10:c.*223_*228del MANE Select	ENSP00000344666.5:n.*223_*228del
ENST00000361166.9:c.1429_1434del	ENSP00000354529.5:n.1429_1434del
ENST00000672461.1:c.*283_*288del	ENSP00000500919.1:n.*283_*288del
ENST00000672896.1:c.*283_*288del	ENSP00000500117.1:n.*283_*288del
ENST00000673312.1:c.2030_2035del	ENSP00000500186.1:n.2030_2035del
ENST00000338641.8:c.*223_*228del	ENSP00000344666.4:n.*223_*228del
ENST00000361452.8:c.*283_*288del	ENSP00000354897.4:n.*283_*288del
ENST00000413209.6:c.*223_*228del	ENSP00000409921.2:n.*223_*228del
NM_000268.3:c.*223_*228del , LRG_511t1:c.*223_*228del	NP_000259.1:n.*223_*228del
NM_016418.5:c.*283_*288del , LRG_511t2:c.*283_*288del	NP_057502.2:n.*283_*288del
NM_181828.2:c.*283_*288del	NP_861966.1:n.*283_*288del
NM_181829.2:c.*283_*288del	NP_861967.1:n.*283_*288del
NM_181830.2:c.*283_*288del	NP_861968.1:n.*283_*288del
NM_181832.2:c.*298_*303del	NP_861970.1:n.*298_*303del
NM_181833.2:c.*223_*228del	NP_861971.1:n.*223_*228del
NR_156186.1:n.2570_2575del
XM_017028809.2:c.*223_*228del	XP_016884298.1:n.*223_*228del
XM_017028810.1:c.*283_*288del	XP_016884299.1:n.*283_*288del
NM_000268.4:c.*223_*228del MANE Select	NP_000259.1:n.*223_*228del
NM_181828.3:c.*283_*288del	NP_861966.1:n.*283_*288del
NM_181829.3:c.*283_*288del	NP_861967.1:n.*283_*288del
NM_181830.3:c.*283_*288del	NP_861968.1:n.*283_*288del
NM_181832.3:c.*298_*303del	NP_861970.1:n.*298_*303del
NR_156186.2:n.2493_2498del
NM_181833.3:c.*223_*228del	NP_861971.1:n.*223_*228del