Canonical Allele Identifier: CA638997307

Gene: NF2

Linked Data

• dbSNP Id: rs1490476768
• gnomAD v2: 22-30092033-T-TG
• gnomAD v3: 22-29696044-T-TG
• gnomAD v4: 22-29696044-T-TG
• MyVariant Identifiers: chr22:g.30092033_30092034insG (hg19) ; chr22:g.29696044_29696045insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696048dup , CM000684.2:g.29696048dup	GRCh38
NC_000022.10:g.30092037dup , CM000684.1:g.30092037dup	GRCh37
NC_000022.9:g.28422037dup	NCBI36
NG_009057.1:g.97493dup , LRG_511:g.97493dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1246dup MANE Select	ENSP00000344666.5:n.*1246dup
ENST00000672461.1:c.*501+805dup	ENSP00000500919.1:n.*501+805dup
ENST00000672896.1:c.*1306dup	ENSP00000500117.1:n.*1306dup
ENST00000338641.8:c.*1246dup	ENSP00000344666.4:n.*1246dup
ENST00000361452.8:c.*1306dup	ENSP00000354897.4:n.*1306dup
ENST00000413209.6:c.*1246dup	ENSP00000409921.2:n.*1246dup
NM_000268.3:c.*1246dup , LRG_511t1:c.*1246dup	NP_000259.1:n.*1246dup
NM_016418.5:c.*1306dup , LRG_511t2:c.*1306dup	NP_057502.2:n.*1306dup
NM_181828.2:c.*1306dup	NP_861966.1:n.*1306dup
NM_181829.2:c.*1306dup	NP_861967.1:n.*1306dup
NM_181830.2:c.*1306dup	NP_861968.1:n.*1306dup
NM_181832.2:c.*1321dup	NP_861970.1:n.*1321dup
NM_181833.2:c.*1246dup	NP_861971.1:n.*1246dup
NR_156186.1:n.3593dup
XM_017028810.1:c.*1306dup	XP_016884299.1:n.*1306dup
NM_000268.4:c.*1246dup MANE Select	NP_000259.1:n.*1246dup
NM_181828.3:c.*1306dup	NP_861966.1:n.*1306dup
NM_181829.3:c.*1306dup	NP_861967.1:n.*1306dup
NM_181830.3:c.*1306dup	NP_861968.1:n.*1306dup
NM_181832.3:c.*1321dup	NP_861970.1:n.*1321dup
NR_156186.2:n.3516dup
NM_181833.3:c.*1246dup	NP_861971.1:n.*1246dup