Canonical Allele Identifier: CA10653343
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341164
ClinVar RCV Id: RCV000346019
dbSNP Id: rs886057383

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697991G>T , CM000684.2:g.29697991G>T GRCh38
NC_000022.10:g.30093980G>T , CM000684.1:g.30093980G>T GRCh37
NC_000022.9:g.28423980G>T NCBI36
NG_009057.1:g.99436G>T , LRG_511:g.99436G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*3189G>T MANE Select ENSP00000344666.5:p.=
ENST00000672896.1:c.*3249G>T ENSP00000500117.1:p.=
ENST00000338641.8:c.*3189G>T ENSP00000344666.4:p.=
ENST00000361452.8:c.*3249G>T ENSP00000354897.4:p.=
ENST00000413209.6:c.*3189G>T ENSP00000409921.2:p.=
NM_000268.3:c.*3189G>T , LRG_511t1:c.*3189G>T NP_000259.1:p.=
NM_016418.5:c.*3249G>T , LRG_511t2:c.*3249G>T NP_057502.2:p.=
NM_181828.2:c.*3249G>T NP_861966.1:p.=
NM_181829.2:c.*3249G>T NP_861967.1:p.=
NM_181830.2:c.*3249G>T NP_861968.1:p.=
NM_181832.2:c.*3264G>T NP_861970.1:p.=
NM_181833.2:c.*3189G>T NP_861971.1:p.=
NR_156186.1:n.5536G>T
XM_017028810.1:c.*3249G>T XP_016884299.1:p.=
NM_000268.4:c.*3189G>T MANE Select NP_000259.1:p.=
NM_181828.3:c.*3249G>T NP_861966.1:p.=
NM_181829.3:c.*3249G>T NP_861967.1:p.=
NM_181830.3:c.*3249G>T NP_861968.1:p.=
NM_181832.3:c.*3264G>T NP_861970.1:p.=
NR_156186.2:n.5459G>T
NM_181833.3:c.*3189G>T NP_861971.1:p.=