Canonical Allele Identifier: CA2400692412

Gene: NF2

Linked Data

• dbSNP Id: rs2067509799
• gnomAD v4: 22-29695029-CTTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695033_29695037del , CM000684.2:g.29695033_29695037del	GRCh38
NC_000022.10:g.30091022_30091026del , CM000684.1:g.30091022_30091026del	GRCh37
NC_000022.9:g.28421022_28421026del	NCBI36
NG_009057.1:g.96478_96482del , LRG_511:g.96478_96482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*231_*235del	ENSP00000354529.6:n.*231_*235del
ENST00000673312.2:c.*1513_*1517del	ENSP00000500186.2:n.*1513_*1517del
ENST00000338641.10:c.*231_*235del MANE Select	ENSP00000344666.5:n.*231_*235del
ENST00000361166.9:c.1437_1441del	ENSP00000354529.5:n.1437_1441del
ENST00000672461.1:c.*291_*295del	ENSP00000500919.1:n.*291_*295del
ENST00000672896.1:c.*291_*295del	ENSP00000500117.1:n.*291_*295del
ENST00000673312.1:c.2038_2042del	ENSP00000500186.1:n.2038_2042del
ENST00000338641.8:c.*231_*235del	ENSP00000344666.4:n.*231_*235del
ENST00000361452.8:c.*291_*295del	ENSP00000354897.4:n.*291_*295del
ENST00000413209.6:c.*231_*235del	ENSP00000409921.2:n.*231_*235del
NM_000268.3:c.*231_*235del , LRG_511t1:c.*231_*235del	NP_000259.1:n.*231_*235del
NM_016418.5:c.*291_*295del , LRG_511t2:c.*291_*295del	NP_057502.2:n.*291_*295del
NM_181828.2:c.*291_*295del	NP_861966.1:n.*291_*295del
NM_181829.2:c.*291_*295del	NP_861967.1:n.*291_*295del
NM_181830.2:c.*291_*295del	NP_861968.1:n.*291_*295del
NM_181832.2:c.*306_*310del	NP_861970.1:n.*306_*310del
NM_181833.2:c.*231_*235del	NP_861971.1:n.*231_*235del
NR_156186.1:n.2578_2582del
XM_017028809.2:c.*231_*235del	XP_016884298.1:n.*231_*235del
XM_017028810.1:c.*291_*295del	XP_016884299.1:n.*291_*295del
NM_000268.4:c.*231_*235del MANE Select	NP_000259.1:n.*231_*235del
NM_181828.3:c.*291_*295del	NP_861966.1:n.*291_*295del
NM_181829.3:c.*291_*295del	NP_861967.1:n.*291_*295del
NM_181830.3:c.*291_*295del	NP_861968.1:n.*291_*295del
NM_181832.3:c.*306_*310del	NP_861970.1:n.*306_*310del
NR_156186.2:n.2501_2505del
NM_181833.3:c.*231_*235del	NP_861971.1:n.*231_*235del