Canonical Allele Identifier: CA638997627

Gene: NF2

Linked Data

• dbSNP Id: rs1462540746
• gnomAD v2: 22-30093503-A-AAGAT
• gnomAD v3: 22-29697514-A-AAGAT
• gnomAD v4: 22-29697514-A-AAGAT
• MyVariant Identifiers: chr22:g.30093503_30093504insAGAT (hg19) ; chr22:g.29697514_29697515insAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697517_29697518insTAGA , CM000684.2:g.29697517_29697518insTAGA	GRCh38
NC_000022.10:g.30093506_30093507insTAGA , CM000684.1:g.30093506_30093507insTAGA	GRCh37
NC_000022.9:g.28423506_28423507insTAGA	NCBI36
NG_009057.1:g.98962_98963insTAGA , LRG_511:g.98962_98963insTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2715_*2716insTAGA MANE Select	ENSP00000344666.5:n.*2715_*2716insTAGA
ENST00000672461.1:c.*758_*759insTAGA	ENSP00000500919.1:n.*758_*759insTAGA
ENST00000672896.1:c.*2775_*2776insTAGA	ENSP00000500117.1:n.*2775_*2776insTAGA
ENST00000338641.8:c.*2715_*2716insTAGA	ENSP00000344666.4:n.*2715_*2716insTAGA
ENST00000361452.8:c.*2775_*2776insTAGA	ENSP00000354897.4:n.*2775_*2776insTAGA
ENST00000413209.6:c.*2715_*2716insTAGA	ENSP00000409921.2:n.*2715_*2716insTAGA
NM_000268.3:c.*2715_*2716insTAGA , LRG_511t1:c.*2715_*2716insTAGA	NP_000259.1:n.*2715_*2716insTAGA
NM_016418.5:c.*2775_*2776insTAGA , LRG_511t2:c.*2775_*2776insTAGA	NP_057502.2:n.*2775_*2776insTAGA
NM_181828.2:c.*2775_*2776insTAGA	NP_861966.1:n.*2775_*2776insTAGA
NM_181829.2:c.*2775_*2776insTAGA	NP_861967.1:n.*2775_*2776insTAGA
NM_181830.2:c.*2775_*2776insTAGA	NP_861968.1:n.*2775_*2776insTAGA
NM_181832.2:c.*2790_*2791insTAGA	NP_861970.1:n.*2790_*2791insTAGA
NM_181833.2:c.*2715_*2716insTAGA	NP_861971.1:n.*2715_*2716insTAGA
NR_156186.1:n.5062_5063insTAGA
XM_017028810.1:c.*2775_*2776insTAGA	XP_016884299.1:n.*2775_*2776insTAGA
NM_000268.4:c.*2715_*2716insTAGA MANE Select	NP_000259.1:n.*2715_*2716insTAGA
NM_181828.3:c.*2775_*2776insTAGA	NP_861966.1:n.*2775_*2776insTAGA
NM_181829.3:c.*2775_*2776insTAGA	NP_861967.1:n.*2775_*2776insTAGA
NM_181830.3:c.*2775_*2776insTAGA	NP_861968.1:n.*2775_*2776insTAGA
NM_181832.3:c.*2790_*2791insTAGA	NP_861970.1:n.*2790_*2791insTAGA
NR_156186.2:n.4985_4986insTAGA
NM_181833.3:c.*2715_*2716insTAGA	NP_861971.1:n.*2715_*2716insTAGA