Canonical Allele Identifier: CA2573158079
Gene: NF2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694742T>C , CM000684.2:g.29694742T>C GRCh38
NC_000022.10:g.30090731T>C , CM000684.1:g.30090731T>C GRCh37
NC_000022.9:g.28420731T>C NCBI36
NG_009057.1:g.96187T>C , LRG_511:g.96187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1603-10T>C ENSP00000354529.6:n.1603-10T>C
ENST00000673312.2:c.*1232-10T>C ENSP00000500186.2:n.*1232-10T>C
ENST00000338641.10:c.1738-10T>C MANE Select ENSP00000344666.5:n.1738-10T>C
ENST00000361166.9:c.1156-10T>C ENSP00000354529.5:n.1156-10T>C
ENST00000672461.1:c.*10-10T>C ENSP00000500919.1:n.*10-10T>C
ENST00000672805.1:c.*1620-10T>C ENSP00000500295.1:n.*1620-10T>C
ENST00000672896.1:c.*10-10T>C ENSP00000500117.1:n.*10-10T>C
ENST00000673312.1:c.1757-10T>C ENSP00000500186.1:n.1757-10T>C
ENST00000338641.8:c.1738-10T>C ENSP00000344666.4:n.1738-10T>C
ENST00000353887.8:c.*10-10T>C ENSP00000340626.4:n.*10-10T>C
ENST00000361166.8:c.1783-10T>C ENSP00000354529.4:n.1783-10T>C
ENST00000361452.8:c.*10-10T>C ENSP00000354897.4:n.*10-10T>C
ENST00000361676.8:c.1657-10T>C ENSP00000355183.4:n.1657-10T>C
ENST00000397789.3:c.1798-10T>C ENSP00000380891.3:n.1798-10T>C
ENST00000413209.6:c.448-10T>C ENSP00000409921.2:n.448-10T>C
ENST00000432151.5:c.*94-10T>C ENSP00000395885.1:n.*94-10T>C
NM_000268.3:c.1738-10T>C , LRG_511t1:c.1738-10T>C NP_000259.1:n.1738-10T>C
NM_016418.5:c.*10-10T>C , LRG_511t2:c.*10-10T>C NP_057502.2:n.*10-10T>C
NM_181828.2:c.*10-10T>C NP_861966.1:n.*10-10T>C
NM_181829.2:c.*10-10T>C NP_861967.1:n.*10-10T>C
NM_181830.2:c.*10-10T>C NP_861968.1:n.*10-10T>C
NM_181832.2:c.*25-10T>C NP_861970.1:n.*25-10T>C
NM_181833.2:c.448-10T>C NP_861971.1:n.448-10T>C
NR_156186.1:n.2297-10T>C
XM_017028809.2:c.1624-10T>C XP_016884298.1:n.1624-10T>C
XM_017028810.1:c.*10-10T>C XP_016884299.1:n.*10-10T>C
NM_000268.4:c.1738-10T>C MANE Select NP_000259.1:n.1738-10T>C
NM_181828.3:c.*10-10T>C NP_861966.1:n.*10-10T>C
NM_181829.3:c.*10-10T>C NP_861967.1:n.*10-10T>C
NM_181830.3:c.*10-10T>C NP_861968.1:n.*10-10T>C
NM_181832.3:c.*25-10T>C NP_861970.1:n.*25-10T>C
NR_156186.2:n.2220-10T>C
NM_181833.3:c.448-10T>C NP_861971.1:n.448-10T>C