Canonical Allele Identifier: CA2400692587
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695391C= , CM000684.2:g.29695391C= GRCh38
NC_000022.10:g.30091380C= , CM000684.1:g.30091380C= GRCh37
NC_000022.9:g.28421380C= NCBI36
NG_009057.1:g.96836C= , LRG_511:g.96836C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*589C= MANE Select ENSP00000344666.5:n.*589C=
ENST00000672461.1:c.*501+148C= ENSP00000500919.1:n.*501+148C=
ENST00000672896.1:c.*649C= ENSP00000500117.1:n.*649C=
ENST00000338641.8:c.*589C= ENSP00000344666.4:n.*589C=
ENST00000361452.8:c.*649C= ENSP00000354897.4:n.*649C=
ENST00000413209.6:c.*589C= ENSP00000409921.2:n.*589C=
NM_000268.3:c.*589C= , LRG_511t1:c.*589C= NP_000259.1:n.*589C=
NM_016418.5:c.*649C= , LRG_511t2:c.*649C= NP_057502.2:n.*649C=
NM_181828.2:c.*649C= NP_861966.1:n.*649C=
NM_181829.2:c.*649C= NP_861967.1:n.*649C=
NM_181830.2:c.*649C= NP_861968.1:n.*649C=
NM_181832.2:c.*664C= NP_861970.1:n.*664C=
NM_181833.2:c.*589C= NP_861971.1:n.*589C=
NR_156186.1:n.2936C=
XM_017028810.1:c.*649C= XP_016884299.1:n.*649C=
NM_000268.4:c.*589C= MANE Select NP_000259.1:n.*589C=
NM_181828.3:c.*649C= NP_861966.1:n.*649C=
NM_181829.3:c.*649C= NP_861967.1:n.*649C=
NM_181830.3:c.*649C= NP_861968.1:n.*649C=
NM_181832.3:c.*664C= NP_861970.1:n.*664C=
NR_156186.2:n.2859C=
NM_181833.3:c.*589C= NP_861971.1:n.*589C=