Canonical Allele Identifier: CA323129502

Gene: NF2

Linked Data

• dbSNP Id: rs995891082
• gnomAD v2: 22-30092895-TCC-T
• gnomAD v3: 22-29696906-TCC-T
• gnomAD v4: 22-29696906-TCC-T
• MyVariant Identifiers: chr22:g.30092896_30092897del (hg19) ; chr22:g.29696907_29696908del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696908_29696909del , CM000684.2:g.29696908_29696909del	GRCh38
NC_000022.10:g.30092897_30092898del , CM000684.1:g.30092897_30092898del	GRCh37
NC_000022.9:g.28422897_28422898del	NCBI36
NG_009057.1:g.98353_98354del , LRG_511:g.98353_98354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*2106_*2107del MANE Select	ENSP00000344666.5:n.*2106_*2107del
ENST00000672461.1:c.*502-353_*502-352del	ENSP00000500919.1:n.*502-353_*502-352del
ENST00000672896.1:c.*2166_*2167del	ENSP00000500117.1:n.*2166_*2167del
ENST00000338641.8:c.*2106_*2107del	ENSP00000344666.4:n.*2106_*2107del
ENST00000361452.8:c.*2166_*2167del	ENSP00000354897.4:n.*2166_*2167del
ENST00000413209.6:c.*2106_*2107del	ENSP00000409921.2:n.*2106_*2107del
NM_000268.3:c.*2106_*2107del , LRG_511t1:c.*2106_*2107del	NP_000259.1:n.*2106_*2107del
NM_016418.5:c.*2166_*2167del , LRG_511t2:c.*2166_*2167del	NP_057502.2:n.*2166_*2167del
NM_181828.2:c.*2166_*2167del	NP_861966.1:n.*2166_*2167del
NM_181829.2:c.*2166_*2167del	NP_861967.1:n.*2166_*2167del
NM_181830.2:c.*2166_*2167del	NP_861968.1:n.*2166_*2167del
NM_181832.2:c.*2181_*2182del	NP_861970.1:n.*2181_*2182del
NM_181833.2:c.*2106_*2107del	NP_861971.1:n.*2106_*2107del
NR_156186.1:n.4453_4454del
XM_017028810.1:c.*2166_*2167del	XP_016884299.1:n.*2166_*2167del
NM_000268.4:c.*2106_*2107del MANE Select	NP_000259.1:n.*2106_*2107del
NM_181828.3:c.*2166_*2167del	NP_861966.1:n.*2166_*2167del
NM_181829.3:c.*2166_*2167del	NP_861967.1:n.*2166_*2167del
NM_181830.3:c.*2166_*2167del	NP_861968.1:n.*2166_*2167del
NM_181832.3:c.*2181_*2182del	NP_861970.1:n.*2181_*2182del
NR_156186.2:n.4376_4377del
NM_181833.3:c.*2106_*2107del	NP_861971.1:n.*2106_*2107del