Canonical Allele Identifier: CA2400692370
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs1601689439

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694943G>C , CM000684.2:g.29694943G>C GRCh38
NC_000022.10:g.30090932G>C , CM000684.1:g.30090932G>C GRCh37
NC_000022.9:g.28420932G>C NCBI36
NG_009057.1:g.96388G>C , LRG_511:g.96388G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*141G>C ENSP00000354529.6:n.*141G>C
ENST00000673312.2:c.*1423G>C ENSP00000500186.2:n.*1423G>C
ENST00000338641.10:c.*141G>C MANE Select ENSP00000344666.5:n.*141G>C
ENST00000361166.9:c.1347G>C ENSP00000354529.5:n.1347G>C
ENST00000672461.1:c.*201G>C ENSP00000500919.1:n.*201G>C
ENST00000672805.1:c.*1811G>C ENSP00000500295.1:n.*1811G>C
ENST00000672896.1:c.*201G>C ENSP00000500117.1:n.*201G>C
ENST00000673312.1:c.1948G>C ENSP00000500186.1:n.1948G>C
ENST00000338641.8:c.*141G>C ENSP00000344666.4:n.*141G>C
ENST00000361452.8:c.*201G>C ENSP00000354897.4:n.*201G>C
ENST00000413209.6:c.*141G>C ENSP00000409921.2:n.*141G>C
ENST00000432151.5:c.*285G>C ENSP00000395885.1:n.*285G>C
NM_000268.3:c.*141G>C , LRG_511t1:c.*141G>C NP_000259.1:n.*141G>C
NM_016418.5:c.*201G>C , LRG_511t2:c.*201G>C NP_057502.2:n.*201G>C
NM_181828.2:c.*201G>C NP_861966.1:n.*201G>C
NM_181829.2:c.*201G>C NP_861967.1:n.*201G>C
NM_181830.2:c.*201G>C NP_861968.1:n.*201G>C
NM_181832.2:c.*216G>C NP_861970.1:n.*216G>C
NM_181833.2:c.*141G>C NP_861971.1:n.*141G>C
NR_156186.1:n.2488G>C
XM_017028809.2:c.*141G>C XP_016884298.1:n.*141G>C
XM_017028810.1:c.*201G>C XP_016884299.1:n.*201G>C
NM_000268.4:c.*141G>C MANE Select NP_000259.1:n.*141G>C
NM_181828.3:c.*201G>C NP_861966.1:n.*201G>C
NM_181829.3:c.*201G>C NP_861967.1:n.*201G>C
NM_181830.3:c.*201G>C NP_861968.1:n.*201G>C
NM_181832.3:c.*216G>C NP_861970.1:n.*216G>C
NR_156186.2:n.2411G>C
NM_181833.3:c.*141G>C NP_861971.1:n.*141G>C