Canonical Allele Identifier: CA752252764

Gene: NF2

Linked Data

• dbSNP Id: rs1165401231
• gnomAD v3: 22-29698261-G-GT
• gnomAD v4: 22-29698261-G-GT
• MyVariant Identifiers: chr22:g.30094250_30094251insT (hg19) ; chr22:g.29698261_29698262insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698264dup , CM000684.2:g.29698264dup	GRCh38
NC_000022.10:g.30094253dup , CM000684.1:g.30094253dup	GRCh37
NC_000022.9:g.28424253dup	NCBI36
NG_009057.1:g.99709dup , LRG_511:g.99709dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3462dup MANE Select	ENSP00000344666.5:n.*3462dup
ENST00000672896.1:c.*3522dup	ENSP00000500117.1:n.*3522dup
ENST00000338641.8:c.*3462dup	ENSP00000344666.4:n.*3462dup
ENST00000361452.8:c.*3522dup	ENSP00000354897.4:n.*3522dup
ENST00000413209.6:c.*3462dup	ENSP00000409921.2:n.*3462dup
NM_000268.3:c.*3462dup , LRG_511t1:c.*3462dup	NP_000259.1:n.*3462dup
NM_016418.5:c.*3522dup , LRG_511t2:c.*3522dup	NP_057502.2:n.*3522dup
NM_181828.2:c.*3522dup	NP_861966.1:n.*3522dup
NM_181829.2:c.*3522dup	NP_861967.1:n.*3522dup
NM_181830.2:c.*3522dup	NP_861968.1:n.*3522dup
NM_181832.2:c.*3537dup	NP_861970.1:n.*3537dup
NM_181833.2:c.*3462dup	NP_861971.1:n.*3462dup
NR_156186.1:n.5809dup
XM_017028810.1:c.*3522dup	XP_016884299.1:n.*3522dup
NM_000268.4:c.*3462dup MANE Select	NP_000259.1:n.*3462dup
NM_181828.3:c.*3522dup	NP_861966.1:n.*3522dup
NM_181829.3:c.*3522dup	NP_861967.1:n.*3522dup
NM_181830.3:c.*3522dup	NP_861968.1:n.*3522dup
NM_181832.3:c.*3537dup	NP_861970.1:n.*3537dup
NR_156186.2:n.5732dup
NM_181833.3:c.*3462dup	NP_861971.1:n.*3462dup