Canonical Allele Identifier: CA2656033025

Gene: NF2

Linked Data

• gnomAD v4: 22-29694917-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29694919del , CM000684.2:g.29694919del	GRCh38
NC_000022.10:g.30090908del , CM000684.1:g.30090908del	GRCh37
NC_000022.9:g.28420908del	NCBI36
NG_009057.1:g.96364del , LRG_511:g.96364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*117del	ENSP00000354529.6:n.*117del
ENST00000673312.2:c.*1399del	ENSP00000500186.2:n.*1399del
ENST00000338641.10:c.*117del MANE Select	ENSP00000344666.5:n.*117del
ENST00000361166.9:c.1323del	ENSP00000354529.5:n.1323del
ENST00000672461.1:c.*177del	ENSP00000500919.1:n.*177del
ENST00000672805.1:c.*1787del	ENSP00000500295.1:n.*1787del
ENST00000672896.1:c.*177del	ENSP00000500117.1:n.*177del
ENST00000673312.1:c.1924del	ENSP00000500186.1:n.1924del
ENST00000338641.8:c.*117del	ENSP00000344666.4:n.*117del
ENST00000361452.8:c.*177del	ENSP00000354897.4:n.*177del
ENST00000413209.6:c.*117del	ENSP00000409921.2:n.*117del
ENST00000432151.5:c.*261del	ENSP00000395885.1:n.*261del
NM_000268.3:c.*117del , LRG_511t1:c.*117del	NP_000259.1:n.*117del
NM_016418.5:c.*177del , LRG_511t2:c.*177del	NP_057502.2:n.*177del
NM_181828.2:c.*177del	NP_861966.1:n.*177del
NM_181829.2:c.*177del	NP_861967.1:n.*177del
NM_181830.2:c.*177del	NP_861968.1:n.*177del
NM_181832.2:c.*192del	NP_861970.1:n.*192del
NM_181833.2:c.*117del	NP_861971.1:n.*117del
NR_156186.1:n.2464del
XM_017028809.2:c.*117del	XP_016884298.1:n.*117del
XM_017028810.1:c.*177del	XP_016884299.1:n.*177del
NM_000268.4:c.*117del MANE Select	NP_000259.1:n.*117del
NM_181828.3:c.*177del	NP_861966.1:n.*177del
NM_181829.3:c.*177del	NP_861967.1:n.*177del
NM_181830.3:c.*177del	NP_861968.1:n.*177del
NM_181832.3:c.*192del	NP_861970.1:n.*192del
NR_156186.2:n.2387del
NM_181833.3:c.*117del	NP_861971.1:n.*117del