Canonical Allele Identifier: CA1024926905

Gene: NF2

Linked Data

• dbSNP Id: rs2067518458
• gnomAD v3: 22-29695283-G-A
• gnomAD v4: 22-29695283-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695283G>A , CM000684.2:g.29695283G>A	GRCh38
NC_000022.10:g.30091272G>A , CM000684.1:g.30091272G>A	GRCh37
NC_000022.9:g.28421272G>A	NCBI36
NG_009057.1:g.96728G>A , LRG_511:g.96728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*481G>A MANE Select	ENSP00000344666.5:n.*481G>A
ENST00000672461.1:c.*501+40G>A	ENSP00000500919.1:n.*501+40G>A
ENST00000672896.1:c.*541G>A	ENSP00000500117.1:n.*541G>A
ENST00000338641.8:c.*481G>A	ENSP00000344666.4:n.*481G>A
ENST00000361452.8:c.*541G>A	ENSP00000354897.4:n.*541G>A
ENST00000413209.6:c.*481G>A	ENSP00000409921.2:n.*481G>A
NM_000268.3:c.*481G>A , LRG_511t1:c.*481G>A	NP_000259.1:n.*481G>A
NM_016418.5:c.*541G>A , LRG_511t2:c.*541G>A	NP_057502.2:n.*541G>A
NM_181828.2:c.*541G>A	NP_861966.1:n.*541G>A
NM_181829.2:c.*541G>A	NP_861967.1:n.*541G>A
NM_181830.2:c.*541G>A	NP_861968.1:n.*541G>A
NM_181832.2:c.*556G>A	NP_861970.1:n.*556G>A
NM_181833.2:c.*481G>A	NP_861971.1:n.*481G>A
NR_156186.1:n.2828G>A
XM_017028810.1:c.*541G>A	XP_016884299.1:n.*541G>A
NM_000268.4:c.*481G>A MANE Select	NP_000259.1:n.*481G>A
NM_181828.3:c.*541G>A	NP_861966.1:n.*541G>A
NM_181829.3:c.*541G>A	NP_861967.1:n.*541G>A
NM_181830.3:c.*541G>A	NP_861968.1:n.*541G>A
NM_181832.3:c.*556G>A	NP_861970.1:n.*556G>A
NR_156186.2:n.2751G>A
NM_181833.3:c.*481G>A	NP_861971.1:n.*481G>A