Canonical Allele Identifier: CA1024926756

Gene: NF2

Linked Data

• dbSNP Id: rs2067510619
• gnomAD v3: 22-29695053-T-TAACCCTAAC
• gnomAD v4: 22-29695053-T-TAACCCTAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695053_29695054insAACCCTAAC , CM000684.2:g.29695053_29695054insAACCCTAAC	GRCh38
NC_000022.10:g.30091042_30091043insAACCCTAAC , CM000684.1:g.30091042_30091043insAACCCTAAC	GRCh37
NC_000022.9:g.28421042_28421043insAACCCTAAC	NCBI36
NG_009057.1:g.96498_96499insAACCCTAAC , LRG_511:g.96498_96499insAACCCTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.*251_*252insAACCCTAAC	ENSP00000354529.6:n.*251_*252insAACCCTAAC
ENST00000673312.2:c.*1533_*1534insAACCCTAAC	ENSP00000500186.2:n.*1533_*1534insAACCCTAAC
ENST00000338641.10:c.*251_*252insAACCCTAAC MANE Select	ENSP00000344666.5:n.*251_*252insAACCCTAAC
ENST00000361166.9:c.1457_1458insAACCCTAAC	ENSP00000354529.5:n.1457_1458insAACCCTAAC
ENST00000672461.1:c.*311_*312insAACCCTAAC	ENSP00000500919.1:n.*311_*312insAACCCTAAC
ENST00000672896.1:c.*311_*312insAACCCTAAC	ENSP00000500117.1:n.*311_*312insAACCCTAAC
ENST00000673312.1:c.2058_2059insAACCCTAAC	ENSP00000500186.1:n.2058_2059insAACCCTAAC
ENST00000338641.8:c.*251_*252insAACCCTAAC	ENSP00000344666.4:n.*251_*252insAACCCTAAC
ENST00000361452.8:c.*311_*312insAACCCTAAC	ENSP00000354897.4:n.*311_*312insAACCCTAAC
ENST00000413209.6:c.*251_*252insAACCCTAAC	ENSP00000409921.2:n.*251_*252insAACCCTAAC
NM_000268.3:c.*251_*252insAACCCTAAC , LRG_511t1:c.*251_*252insAACCCTAAC	NP_000259.1:n.*251_*252insAACCCTAAC
NM_016418.5:c.*311_*312insAACCCTAAC , LRG_511t2:c.*311_*312insAACCCTAAC	NP_057502.2:n.*311_*312insAACCCTAAC
NM_181828.2:c.*311_*312insAACCCTAAC	NP_861966.1:n.*311_*312insAACCCTAAC
NM_181829.2:c.*311_*312insAACCCTAAC	NP_861967.1:n.*311_*312insAACCCTAAC
NM_181830.2:c.*311_*312insAACCCTAAC	NP_861968.1:n.*311_*312insAACCCTAAC
NM_181832.2:c.*326_*327insAACCCTAAC	NP_861970.1:n.*326_*327insAACCCTAAC
NM_181833.2:c.*251_*252insAACCCTAAC	NP_861971.1:n.*251_*252insAACCCTAAC
NR_156186.1:n.2598_2599insAACCCTAAC
XM_017028809.2:c.*251_*252insAACCCTAAC	XP_016884298.1:n.*251_*252insAACCCTAAC
XM_017028810.1:c.*311_*312insAACCCTAAC	XP_016884299.1:n.*311_*312insAACCCTAAC
NM_000268.4:c.*251_*252insAACCCTAAC MANE Select	NP_000259.1:n.*251_*252insAACCCTAAC
NM_181828.3:c.*311_*312insAACCCTAAC	NP_861966.1:n.*311_*312insAACCCTAAC
NM_181829.3:c.*311_*312insAACCCTAAC	NP_861967.1:n.*311_*312insAACCCTAAC
NM_181830.3:c.*311_*312insAACCCTAAC	NP_861968.1:n.*311_*312insAACCCTAAC
NM_181832.3:c.*326_*327insAACCCTAAC	NP_861970.1:n.*326_*327insAACCCTAAC
NR_156186.2:n.2521_2522insAACCCTAAC
NM_181833.3:c.*251_*252insAACCCTAAC	NP_861971.1:n.*251_*252insAACCCTAAC