Canonical Allele Identifier: CA2589750962

Gene: NF2

Linked Data

• dbSNP Id: rs2067585637
• gnomAD v3: 22-29697514-A-AAG
• gnomAD v4: 22-29697514-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697518_29697519dup , CM000684.2:g.29697518_29697519dup	GRCh38
NC_000022.10:g.30093507_30093508dup , CM000684.1:g.30093507_30093508dup	GRCh37
NC_000022.9:g.28423507_28423508dup	NCBI36
NG_009057.1:g.98963_98964dup , LRG_511:g.98963_98964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2716_*2717dup MANE Select	ENSP00000344666.5:n.*2716_*2717dup
ENST00000672461.1:c.*759_*760dup	ENSP00000500919.1:n.*759_*760dup
ENST00000672896.1:c.*2776_*2777dup	ENSP00000500117.1:n.*2776_*2777dup
ENST00000338641.8:c.*2716_*2717dup	ENSP00000344666.4:n.*2716_*2717dup
ENST00000361452.8:c.*2776_*2777dup	ENSP00000354897.4:n.*2776_*2777dup
ENST00000413209.6:c.*2716_*2717dup	ENSP00000409921.2:n.*2716_*2717dup
NM_000268.3:c.*2716_*2717dup , LRG_511t1:c.*2716_*2717dup	NP_000259.1:n.*2716_*2717dup
NM_016418.5:c.*2776_*2777dup , LRG_511t2:c.*2776_*2777dup	NP_057502.2:n.*2776_*2777dup
NM_181828.2:c.*2776_*2777dup	NP_861966.1:n.*2776_*2777dup
NM_181829.2:c.*2776_*2777dup	NP_861967.1:n.*2776_*2777dup
NM_181830.2:c.*2776_*2777dup	NP_861968.1:n.*2776_*2777dup
NM_181832.2:c.*2791_*2792dup	NP_861970.1:n.*2791_*2792dup
NM_181833.2:c.*2716_*2717dup	NP_861971.1:n.*2716_*2717dup
NR_156186.1:n.5063_5064dup
XM_017028810.1:c.*2776_*2777dup	XP_016884299.1:n.*2776_*2777dup
NM_000268.4:c.*2716_*2717dup MANE Select	NP_000259.1:n.*2716_*2717dup
NM_181828.3:c.*2776_*2777dup	NP_861966.1:n.*2776_*2777dup
NM_181829.3:c.*2776_*2777dup	NP_861967.1:n.*2776_*2777dup
NM_181830.3:c.*2776_*2777dup	NP_861968.1:n.*2776_*2777dup
NM_181832.3:c.*2791_*2792dup	NP_861970.1:n.*2791_*2792dup
NR_156186.2:n.4986_4987dup
NM_181833.3:c.*2716_*2717dup	NP_861971.1:n.*2716_*2717dup