Canonical Allele Identifier: CA658658914
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 457909
ClinVar RCV Id: RCV000549256
dbSNP Id: rs1556008383

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694748_29694755delinsG , CM000684.2:g.29694748_29694755delinsG GRCh38
NC_000022.10:g.30090737_30090744delinsG , CM000684.1:g.30090737_30090744delinsG GRCh37
NC_000022.9:g.28420737_28420744delinsG NCBI36
NG_009057.1:g.96193_96200delinsG , LRG_511:g.96193_96200delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.1603-4_1606delinsG
ENST00000673312.2:c.*1232-4_*1235delinsG
ENST00000338641.10:c.1738-4_1741delinsG
ENST00000361166.9:c.1156-4_1159delinsG
ENST00000672461.1:c.*10-4_*13delinsG
ENST00000672805.1:c.*1620-4_*1623delinsG
ENST00000672896.1:c.*10-4_*13delinsG
ENST00000673312.1:c.1757-4_1760delinsG
ENST00000338641.8:c.1738-4_1741delinsG
ENST00000353887.8:c.*10-4_*13delinsG
ENST00000361166.8:c.1783-4_1786delinsG
ENST00000361452.8:c.*10-4_*13delinsG
ENST00000361676.8:c.1657-4_1660delinsG
ENST00000397789.3:c.1798-4_1801delinsG
ENST00000413209.6:c.448-4_451delinsG
ENST00000432151.5:c.*94-4_*97delinsG
NM_000268.3:c.1738-4_1741delinsG , LRG_511t1:c.1738-4_1741delinsG
NM_016418.5:c.*10-4_*13delinsG , LRG_511t2:c.*10-4_*13delinsG
NM_181828.2:c.*10-4_*13delinsG
NM_181829.2:c.*10-4_*13delinsG
NM_181830.2:c.*10-4_*13delinsG
NM_181832.2:c.*25-4_*28delinsG
NM_181833.2:c.448-4_451delinsG
NR_156186.1:n.2297-4_2300delinsG
XM_017028809.2:c.1624-4_1627delinsG
XM_017028810.1:c.*10-4_*13delinsG
NM_000268.4:c.1738-4_1741delinsG
NM_181828.3:c.*10-4_*13delinsG
NM_181829.3:c.*10-4_*13delinsG
NM_181830.3:c.*10-4_*13delinsG
NM_181832.3:c.*25-4_*28delinsG
NR_156186.2:n.2220-4_2223delinsG
NM_181833.3:c.448-4_451delinsG