Canonical Allele Identifier: CA2400692321
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694851C= , CM000684.2:g.29694851C= GRCh38
NC_000022.10:g.30090840C= , CM000684.1:g.30090840C= GRCh37
NC_000022.9:g.28420840C= NCBI36
NG_009057.1:g.96296C= , LRG_511:g.96296C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*49C= ENSP00000354529.6:n.*49C=
ENST00000673312.2:c.*1331C= ENSP00000500186.2:n.*1331C=
ENST00000338641.10:c.*49C= MANE Select ENSP00000344666.5:n.*49C=
ENST00000361166.9:c.1255C= ENSP00000354529.5:n.1255C=
ENST00000672461.1:c.*109C= ENSP00000500919.1:n.*109C=
ENST00000672805.1:c.*1719C= ENSP00000500295.1:n.*1719C=
ENST00000672896.1:c.*109C= ENSP00000500117.1:n.*109C=
ENST00000673312.1:c.1856C= ENSP00000500186.1:n.1856C=
ENST00000338641.8:c.*49C= ENSP00000344666.4:n.*49C=
ENST00000361452.8:c.*109C= ENSP00000354897.4:n.*109C=
ENST00000413209.6:c.*49C= ENSP00000409921.2:n.*49C=
ENST00000432151.5:c.*193C= ENSP00000395885.1:n.*193C=
NM_000268.3:c.*49C= , LRG_511t1:c.*49C= NP_000259.1:n.*49C=
NM_016418.5:c.*109C= , LRG_511t2:c.*109C= NP_057502.2:n.*109C=
NM_181828.2:c.*109C= NP_861966.1:n.*109C=
NM_181829.2:c.*109C= NP_861967.1:n.*109C=
NM_181830.2:c.*109C= NP_861968.1:n.*109C=
NM_181832.2:c.*124C= NP_861970.1:n.*124C=
NM_181833.2:c.*49C= NP_861971.1:n.*49C=
NR_156186.1:n.2396C=
XM_017028809.2:c.*49C= XP_016884298.1:n.*49C=
XM_017028810.1:c.*109C= XP_016884299.1:n.*109C=
NM_000268.4:c.*49C= MANE Select NP_000259.1:n.*49C=
NM_181828.3:c.*109C= NP_861966.1:n.*109C=
NM_181829.3:c.*109C= NP_861967.1:n.*109C=
NM_181830.3:c.*109C= NP_861968.1:n.*109C=
NM_181832.3:c.*124C= NP_861970.1:n.*124C=
NR_156186.2:n.2319C=
NM_181833.3:c.*49C= NP_861971.1:n.*49C=