Canonical Allele Identifier: CA2656037059

Gene: NF2

Linked Data

• gnomAD v4: 22-29697974-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697976del , CM000684.2:g.29697976del	GRCh38
NC_000022.10:g.30093965del , CM000684.1:g.30093965del	GRCh37
NC_000022.9:g.28423965del	NCBI36
NG_009057.1:g.99421del , LRG_511:g.99421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3174del MANE Select	ENSP00000344666.5:n.*3174del
ENST00000672896.1:c.*3234del	ENSP00000500117.1:n.*3234del
ENST00000338641.8:c.*3174del	ENSP00000344666.4:n.*3174del
ENST00000361452.8:c.*3234del	ENSP00000354897.4:n.*3234del
ENST00000413209.6:c.*3174del	ENSP00000409921.2:n.*3174del
NM_000268.3:c.*3174del , LRG_511t1:c.*3174del	NP_000259.1:n.*3174del
NM_016418.5:c.*3234del , LRG_511t2:c.*3234del	NP_057502.2:n.*3234del
NM_181828.2:c.*3234del	NP_861966.1:n.*3234del
NM_181829.2:c.*3234del	NP_861967.1:n.*3234del
NM_181830.2:c.*3234del	NP_861968.1:n.*3234del
NM_181832.2:c.*3249del	NP_861970.1:n.*3249del
NM_181833.2:c.*3174del	NP_861971.1:n.*3174del
NR_156186.1:n.5521del
XM_017028810.1:c.*3234del	XP_016884299.1:n.*3234del
NM_000268.4:c.*3174del MANE Select	NP_000259.1:n.*3174del
NM_181828.3:c.*3234del	NP_861966.1:n.*3234del
NM_181829.3:c.*3234del	NP_861967.1:n.*3234del
NM_181830.3:c.*3234del	NP_861968.1:n.*3234del
NM_181832.3:c.*3249del	NP_861970.1:n.*3249del
NR_156186.2:n.5444del
NM_181833.3:c.*3174del	NP_861971.1:n.*3174del