Canonical Allele Identifier: CA752250517

Gene: NF2

Linked Data

• dbSNP Id: rs1249873290
• gnomAD v4: 22-29695390-G-A
• MyVariant Identifiers: chr22:g.30091379G>A (hg19) ; chr22:g.29695390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695390G>A , CM000684.2:g.29695390G>A	GRCh38
NC_000022.10:g.30091379G>A , CM000684.1:g.30091379G>A	GRCh37
NC_000022.9:g.28421379G>A	NCBI36
NG_009057.1:g.96835G>A , LRG_511:g.96835G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*588G>A MANE Select	ENSP00000344666.5:n.*588G>A
ENST00000672461.1:c.*501+147G>A	ENSP00000500919.1:n.*501+147G>A
ENST00000672896.1:c.*648G>A	ENSP00000500117.1:n.*648G>A
ENST00000338641.8:c.*588G>A	ENSP00000344666.4:n.*588G>A
ENST00000361452.8:c.*648G>A	ENSP00000354897.4:n.*648G>A
ENST00000413209.6:c.*588G>A	ENSP00000409921.2:n.*588G>A
NM_000268.3:c.*588G>A , LRG_511t1:c.*588G>A	NP_000259.1:n.*588G>A
NM_016418.5:c.*648G>A , LRG_511t2:c.*648G>A	NP_057502.2:n.*648G>A
NM_181828.2:c.*648G>A	NP_861966.1:n.*648G>A
NM_181829.2:c.*648G>A	NP_861967.1:n.*648G>A
NM_181830.2:c.*648G>A	NP_861968.1:n.*648G>A
NM_181832.2:c.*663G>A	NP_861970.1:n.*663G>A
NM_181833.2:c.*588G>A	NP_861971.1:n.*588G>A
NR_156186.1:n.2935G>A
XM_017028810.1:c.*648G>A	XP_016884299.1:n.*648G>A
NM_000268.4:c.*588G>A MANE Select	NP_000259.1:n.*588G>A
NM_181828.3:c.*648G>A	NP_861966.1:n.*648G>A
NM_181829.3:c.*648G>A	NP_861967.1:n.*648G>A
NM_181830.3:c.*648G>A	NP_861968.1:n.*648G>A
NM_181832.3:c.*663G>A	NP_861970.1:n.*663G>A
NR_156186.2:n.2858G>A
NM_181833.3:c.*588G>A	NP_861971.1:n.*588G>A