Canonical Allele Identifier: CA2656036234

Gene: NF2

Linked Data

• gnomAD v4: 22-29697057-T-TTCGCCAGTCTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697057_29697058insTCGCCAGTCTTGG , CM000684.2:g.29697057_29697058insTCGCCAGTCTTGG	GRCh38
NC_000022.10:g.30093046_30093047insTCGCCAGTCTTGG , CM000684.1:g.30093046_30093047insTCGCCAGTCTTGG	GRCh37
NC_000022.9:g.28423046_28423047insTCGCCAGTCTTGG	NCBI36
NG_009057.1:g.98502_98503insTCGCCAGTCTTGG , LRG_511:g.98502_98503insTCGCCAGTCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2255_*2256insTCGCCAGTCTTGG MANE Select	ENSP00000344666.5:n.*2255_*2256insTCGCCAGTCTTGG
ENST00000672461.1:c.*502-204_*502-203insTCGCCAGTCTTGG	ENSP00000500919.1:n.*502-204_*502-203insTCGCCAGTCTTGG
ENST00000672896.1:c.*2315_*2316insTCGCCAGTCTTGG	ENSP00000500117.1:n.*2315_*2316insTCGCCAGTCTTGG
ENST00000338641.8:c.*2255_*2256insTCGCCAGTCTTGG	ENSP00000344666.4:n.*2255_*2256insTCGCCAGTCTTGG
ENST00000361452.8:c.*2315_*2316insTCGCCAGTCTTGG	ENSP00000354897.4:n.*2315_*2316insTCGCCAGTCTTGG
ENST00000413209.6:c.*2255_*2256insTCGCCAGTCTTGG	ENSP00000409921.2:n.*2255_*2256insTCGCCAGTCTTGG
NM_000268.3:c.*2255_*2256insTCGCCAGTCTTGG , LRG_511t1:c.*2255_*2256insTCGCCAGTCTTGG	NP_000259.1:n.*2255_*2256insTCGCCAGTCTTGG
NM_016418.5:c.*2315_*2316insTCGCCAGTCTTGG , LRG_511t2:c.*2315_*2316insTCGCCAGTCTTGG	NP_057502.2:n.*2315_*2316insTCGCCAGTCTTGG
NM_181828.2:c.*2315_*2316insTCGCCAGTCTTGG	NP_861966.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181829.2:c.*2315_*2316insTCGCCAGTCTTGG	NP_861967.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181830.2:c.*2315_*2316insTCGCCAGTCTTGG	NP_861968.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181832.2:c.*2330_*2331insTCGCCAGTCTTGG	NP_861970.1:n.*2330_*2331insTCGCCAGTCTTGG
NM_181833.2:c.*2255_*2256insTCGCCAGTCTTGG	NP_861971.1:n.*2255_*2256insTCGCCAGTCTTGG
NR_156186.1:n.4602_4603insTCGCCAGTCTTGG
XM_017028810.1:c.*2315_*2316insTCGCCAGTCTTGG	XP_016884299.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_000268.4:c.*2255_*2256insTCGCCAGTCTTGG MANE Select	NP_000259.1:n.*2255_*2256insTCGCCAGTCTTGG
NM_181828.3:c.*2315_*2316insTCGCCAGTCTTGG	NP_861966.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181829.3:c.*2315_*2316insTCGCCAGTCTTGG	NP_861967.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181830.3:c.*2315_*2316insTCGCCAGTCTTGG	NP_861968.1:n.*2315_*2316insTCGCCAGTCTTGG
NM_181832.3:c.*2330_*2331insTCGCCAGTCTTGG	NP_861970.1:n.*2330_*2331insTCGCCAGTCTTGG
NR_156186.2:n.4525_4526insTCGCCAGTCTTGG
NM_181833.3:c.*2255_*2256insTCGCCAGTCTTGG	NP_861971.1:n.*2255_*2256insTCGCCAGTCTTGG