Canonical Allele Identifier: CA2400692478

Gene: NF2

Linked Data

• dbSNP Id: rs1601689776

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695182T>G , CM000684.2:g.29695182T>G	GRCh38
NC_000022.10:g.30091171T>G , CM000684.1:g.30091171T>G	GRCh37
NC_000022.9:g.28421171T>G	NCBI36
NG_009057.1:g.96627T>G , LRG_511:g.96627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*380T>G MANE Select	ENSP00000344666.5:n.*380T>G
ENST00000672461.1:c.*440T>G	ENSP00000500919.1:n.*440T>G
ENST00000672896.1:c.*440T>G	ENSP00000500117.1:n.*440T>G
ENST00000338641.8:c.*380T>G	ENSP00000344666.4:n.*380T>G
ENST00000361452.8:c.*440T>G	ENSP00000354897.4:n.*440T>G
ENST00000413209.6:c.*380T>G	ENSP00000409921.2:n.*380T>G
NM_000268.3:c.*380T>G , LRG_511t1:c.*380T>G	NP_000259.1:n.*380T>G
NM_016418.5:c.*440T>G , LRG_511t2:c.*440T>G	NP_057502.2:n.*440T>G
NM_181828.2:c.*440T>G	NP_861966.1:n.*440T>G
NM_181829.2:c.*440T>G	NP_861967.1:n.*440T>G
NM_181830.2:c.*440T>G	NP_861968.1:n.*440T>G
NM_181832.2:c.*455T>G	NP_861970.1:n.*455T>G
NM_181833.2:c.*380T>G	NP_861971.1:n.*380T>G
NR_156186.1:n.2727T>G
XM_017028810.1:c.*440T>G	XP_016884299.1:n.*440T>G
NM_000268.4:c.*380T>G MANE Select	NP_000259.1:n.*380T>G
NM_181828.3:c.*440T>G	NP_861966.1:n.*440T>G
NM_181829.3:c.*440T>G	NP_861967.1:n.*440T>G
NM_181830.3:c.*440T>G	NP_861968.1:n.*440T>G
NM_181832.3:c.*455T>G	NP_861970.1:n.*455T>G
NR_156186.2:n.2650T>G
NM_181833.3:c.*380T>G	NP_861971.1:n.*380T>G