Canonical Allele Identifier: CA10651061
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341171
ClinVar RCV Id: RCV000390502
dbSNP Id: rs886057388

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698282T>G , CM000684.2:g.29698282T>G GRCh38
NC_000022.10:g.30094271T>G , CM000684.1:g.30094271T>G GRCh37
NC_000022.9:g.28424271T>G NCBI36
NG_009057.1:g.99727T>G , LRG_511:g.99727T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*3480T>G MANE Select ENSP00000344666.5:n.*3480T>G
ENST00000672896.1:c.*3540T>G ENSP00000500117.1:n.*3540T>G
ENST00000338641.8:c.*3480T>G ENSP00000344666.4:n.*3480T>G
ENST00000361452.8:c.*3540T>G ENSP00000354897.4:n.*3540T>G
ENST00000413209.6:c.*3480T>G ENSP00000409921.2:n.*3480T>G
NM_000268.3:c.*3480T>G , LRG_511t1:c.*3480T>G NP_000259.1:n.*3480T>G
NM_016418.5:c.*3540T>G , LRG_511t2:c.*3540T>G NP_057502.2:n.*3540T>G
NM_181828.2:c.*3540T>G NP_861966.1:n.*3540T>G
NM_181829.2:c.*3540T>G NP_861967.1:n.*3540T>G
NM_181830.2:c.*3540T>G NP_861968.1:n.*3540T>G
NM_181832.2:c.*3555T>G NP_861970.1:n.*3555T>G
NM_181833.2:c.*3480T>G NP_861971.1:n.*3480T>G
NR_156186.1:n.5827T>G
XM_017028810.1:c.*3540T>G XP_016884299.1:n.*3540T>G
NM_000268.4:c.*3480T>G MANE Select NP_000259.1:n.*3480T>G
NM_181828.3:c.*3540T>G NP_861966.1:n.*3540T>G
NM_181829.3:c.*3540T>G NP_861967.1:n.*3540T>G
NM_181830.3:c.*3540T>G NP_861968.1:n.*3540T>G
NM_181832.3:c.*3555T>G NP_861970.1:n.*3555T>G
NR_156186.2:n.5750T>G
NM_181833.3:c.*3480T>G NP_861971.1:n.*3480T>G