Canonical Allele Identifier: CA752250446

Gene: NF2

Linked Data

• dbSNP Id: rs1221808931
• gnomAD v4: 22-29695319-C-A
• MyVariant Identifiers: chr22:g.30091308C>A (hg19) ; chr22:g.29695319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695319C>A , CM000684.2:g.29695319C>A	GRCh38
NC_000022.10:g.30091308C>A , CM000684.1:g.30091308C>A	GRCh37
NC_000022.9:g.28421308C>A	NCBI36
NG_009057.1:g.96764C>A , LRG_511:g.96764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*517C>A MANE Select	ENSP00000344666.5:n.*517C>A
ENST00000672461.1:c.*501+76C>A	ENSP00000500919.1:n.*501+76C>A
ENST00000672896.1:c.*577C>A	ENSP00000500117.1:n.*577C>A
ENST00000338641.8:c.*517C>A	ENSP00000344666.4:n.*517C>A
ENST00000361452.8:c.*577C>A	ENSP00000354897.4:n.*577C>A
ENST00000413209.6:c.*517C>A	ENSP00000409921.2:n.*517C>A
NM_000268.3:c.*517C>A , LRG_511t1:c.*517C>A	NP_000259.1:n.*517C>A
NM_016418.5:c.*577C>A , LRG_511t2:c.*577C>A	NP_057502.2:n.*577C>A
NM_181828.2:c.*577C>A	NP_861966.1:n.*577C>A
NM_181829.2:c.*577C>A	NP_861967.1:n.*577C>A
NM_181830.2:c.*577C>A	NP_861968.1:n.*577C>A
NM_181832.2:c.*592C>A	NP_861970.1:n.*592C>A
NM_181833.2:c.*517C>A	NP_861971.1:n.*517C>A
NR_156186.1:n.2864C>A
XM_017028810.1:c.*577C>A	XP_016884299.1:n.*577C>A
NM_000268.4:c.*517C>A MANE Select	NP_000259.1:n.*517C>A
NM_181828.3:c.*577C>A	NP_861966.1:n.*577C>A
NM_181829.3:c.*577C>A	NP_861967.1:n.*577C>A
NM_181830.3:c.*577C>A	NP_861968.1:n.*577C>A
NM_181832.3:c.*592C>A	NP_861970.1:n.*592C>A
NR_156186.2:n.2787C>A
NM_181833.3:c.*517C>A	NP_861971.1:n.*517C>A