Canonical Allele Identifier: CA752250317

Gene: NF2

Linked Data

• dbSNP Id: rs1250514042
• gnomAD v3: 22-29695099-G-GGT
• gnomAD v4: 22-29695099-G-GGT
• MyVariant Identifiers: chr22:g.30091088_30091089insGT (hg19) ; chr22:g.29695099_29695100insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695110_29695111dup , CM000684.2:g.29695110_29695111dup	GRCh38
NC_000022.10:g.30091099_30091100dup , CM000684.1:g.30091099_30091100dup	GRCh37
NC_000022.9:g.28421099_28421100dup	NCBI36
NG_009057.1:g.96555_96556dup , LRG_511:g.96555_96556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*308_*309dup MANE Select	ENSP00000344666.5:n.*308_*309dup
ENST00000672461.1:c.*368_*369dup	ENSP00000500919.1:n.*368_*369dup
ENST00000672896.1:c.*368_*369dup	ENSP00000500117.1:n.*368_*369dup
ENST00000338641.8:c.*308_*309dup	ENSP00000344666.4:n.*308_*309dup
ENST00000361452.8:c.*368_*369dup	ENSP00000354897.4:n.*368_*369dup
ENST00000413209.6:c.*308_*309dup	ENSP00000409921.2:n.*308_*309dup
NM_000268.3:c.*308_*309dup , LRG_511t1:c.*308_*309dup	NP_000259.1:n.*308_*309dup
NM_016418.5:c.*368_*369dup , LRG_511t2:c.*368_*369dup	NP_057502.2:n.*368_*369dup
NM_181828.2:c.*368_*369dup	NP_861966.1:n.*368_*369dup
NM_181829.2:c.*368_*369dup	NP_861967.1:n.*368_*369dup
NM_181830.2:c.*368_*369dup	NP_861968.1:n.*368_*369dup
NM_181832.2:c.*383_*384dup	NP_861970.1:n.*383_*384dup
NM_181833.2:c.*308_*309dup	NP_861971.1:n.*308_*309dup
NR_156186.1:n.2655_2656dup
XM_017028810.1:c.*368_*369dup	XP_016884299.1:n.*368_*369dup
NM_000268.4:c.*308_*309dup MANE Select	NP_000259.1:n.*308_*309dup
NM_181828.3:c.*368_*369dup	NP_861966.1:n.*368_*369dup
NM_181829.3:c.*368_*369dup	NP_861967.1:n.*368_*369dup
NM_181830.3:c.*368_*369dup	NP_861968.1:n.*368_*369dup
NM_181832.3:c.*383_*384dup	NP_861970.1:n.*383_*384dup
NR_156186.2:n.2578_2579dup
NM_181833.3:c.*308_*309dup	NP_861971.1:n.*308_*309dup