Canonical Allele Identifier: CA2400692331
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2067504214

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694869A>G , CM000684.2:g.29694869A>G GRCh38
NC_000022.10:g.30090858A>G , CM000684.1:g.30090858A>G GRCh37
NC_000022.9:g.28420858A>G NCBI36
NG_009057.1:g.96314A>G , LRG_511:g.96314A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*67A>G ENSP00000354529.6:n.*67A>G
ENST00000673312.2:c.*1349A>G ENSP00000500186.2:n.*1349A>G
ENST00000338641.10:c.*67A>G MANE Select ENSP00000344666.5:n.*67A>G
ENST00000361166.9:c.1273A>G ENSP00000354529.5:n.1273A>G
ENST00000672461.1:c.*127A>G ENSP00000500919.1:n.*127A>G
ENST00000672805.1:c.*1737A>G ENSP00000500295.1:n.*1737A>G
ENST00000672896.1:c.*127A>G ENSP00000500117.1:n.*127A>G
ENST00000673312.1:c.1874A>G ENSP00000500186.1:n.1874A>G
ENST00000338641.8:c.*67A>G ENSP00000344666.4:n.*67A>G
ENST00000361452.8:c.*127A>G ENSP00000354897.4:n.*127A>G
ENST00000413209.6:c.*67A>G ENSP00000409921.2:n.*67A>G
ENST00000432151.5:c.*211A>G ENSP00000395885.1:n.*211A>G
NM_000268.3:c.*67A>G , LRG_511t1:c.*67A>G NP_000259.1:n.*67A>G
NM_016418.5:c.*127A>G , LRG_511t2:c.*127A>G NP_057502.2:n.*127A>G
NM_181828.2:c.*127A>G NP_861966.1:n.*127A>G
NM_181829.2:c.*127A>G NP_861967.1:n.*127A>G
NM_181830.2:c.*127A>G NP_861968.1:n.*127A>G
NM_181832.2:c.*142A>G NP_861970.1:n.*142A>G
NM_181833.2:c.*67A>G NP_861971.1:n.*67A>G
NR_156186.1:n.2414A>G
XM_017028809.2:c.*67A>G XP_016884298.1:n.*67A>G
XM_017028810.1:c.*127A>G XP_016884299.1:n.*127A>G
NM_000268.4:c.*67A>G MANE Select NP_000259.1:n.*67A>G
NM_181828.3:c.*127A>G NP_861966.1:n.*127A>G
NM_181829.3:c.*127A>G NP_861967.1:n.*127A>G
NM_181830.3:c.*127A>G NP_861968.1:n.*127A>G
NM_181832.3:c.*142A>G NP_861970.1:n.*142A>G
NR_156186.2:n.2337A>G
NM_181833.3:c.*67A>G NP_861971.1:n.*67A>G