Canonical Allele Identifier: CA2656037021

Gene: NF2

Linked Data

• gnomAD v4: 22-29697916-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697918del , CM000684.2:g.29697918del	GRCh38
NC_000022.10:g.30093907del , CM000684.1:g.30093907del	GRCh37
NC_000022.9:g.28423907del	NCBI36
NG_009057.1:g.99363del , LRG_511:g.99363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3116del MANE Select	ENSP00000344666.5:n.*3116del
ENST00000672896.1:c.*3176del	ENSP00000500117.1:n.*3176del
ENST00000338641.8:c.*3116del	ENSP00000344666.4:n.*3116del
ENST00000361452.8:c.*3176del	ENSP00000354897.4:n.*3176del
ENST00000413209.6:c.*3116del	ENSP00000409921.2:n.*3116del
NM_000268.3:c.*3116del , LRG_511t1:c.*3116del	NP_000259.1:n.*3116del
NM_016418.5:c.*3176del , LRG_511t2:c.*3176del	NP_057502.2:n.*3176del
NM_181828.2:c.*3176del	NP_861966.1:n.*3176del
NM_181829.2:c.*3176del	NP_861967.1:n.*3176del
NM_181830.2:c.*3176del	NP_861968.1:n.*3176del
NM_181832.2:c.*3191del	NP_861970.1:n.*3191del
NM_181833.2:c.*3116del	NP_861971.1:n.*3116del
NR_156186.1:n.5463del
XM_017028810.1:c.*3176del	XP_016884299.1:n.*3176del
NM_000268.4:c.*3116del MANE Select	NP_000259.1:n.*3116del
NM_181828.3:c.*3176del	NP_861966.1:n.*3176del
NM_181829.3:c.*3176del	NP_861967.1:n.*3176del
NM_181830.3:c.*3176del	NP_861968.1:n.*3176del
NM_181832.3:c.*3191del	NP_861970.1:n.*3191del
NR_156186.2:n.5386del
NM_181833.3:c.*3116del	NP_861971.1:n.*3116del