Canonical Allele Identifier: CA10654005
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341113
ClinVar RCV Id: RCV000370380
dbSNP Id: rs886057360

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696324C>A , CM000684.2:g.29696324C>A GRCh38
NC_000022.10:g.30092313C>A , CM000684.1:g.30092313C>A GRCh37
NC_000022.9:g.28422313C>A NCBI36
NG_009057.1:g.97769C>A , LRG_511:g.97769C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*1522C>A MANE Select ENSP00000344666.5:p.=
ENST00000672461.1:c.*502-937C>A ENSP00000500919.1:p.=
ENST00000672896.1:c.*1582C>A ENSP00000500117.1:p.=
ENST00000338641.8:c.*1522C>A ENSP00000344666.4:p.=
ENST00000361452.8:c.*1582C>A ENSP00000354897.4:p.=
ENST00000413209.6:c.*1522C>A ENSP00000409921.2:p.=
NM_000268.3:c.*1522C>A , LRG_511t1:c.*1522C>A NP_000259.1:p.=
NM_016418.5:c.*1582C>A , LRG_511t2:c.*1582C>A NP_057502.2:p.=
NM_181828.2:c.*1582C>A NP_861966.1:p.=
NM_181829.2:c.*1582C>A NP_861967.1:p.=
NM_181830.2:c.*1582C>A NP_861968.1:p.=
NM_181832.2:c.*1597C>A NP_861970.1:p.=
NM_181833.2:c.*1522C>A NP_861971.1:p.=
NR_156186.1:n.3869C>A
XM_017028810.1:c.*1582C>A XP_016884299.1:p.=
NM_000268.4:c.*1522C>A MANE Select NP_000259.1:p.=
NM_181828.3:c.*1582C>A NP_861966.1:p.=
NM_181829.3:c.*1582C>A NP_861967.1:p.=
NM_181830.3:c.*1582C>A NP_861968.1:p.=
NM_181832.3:c.*1597C>A NP_861970.1:p.=
NR_156186.2:n.3792C>A
NM_181833.3:c.*1522C>A NP_861971.1:p.=