Canonical Allele Identifier: CA2400693840
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698049G= , CM000684.2:g.29698049G= GRCh38
NC_000022.10:g.30094038G= , CM000684.1:g.30094038G= GRCh37
NC_000022.9:g.28424038G= NCBI36
NG_009057.1:g.99494G= , LRG_511:g.99494G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*3247G= MANE Select ENSP00000344666.5:n.*3247G=
ENST00000672896.1:c.*3307G= ENSP00000500117.1:n.*3307G=
ENST00000338641.8:c.*3247G= ENSP00000344666.4:n.*3247G=
ENST00000361452.8:c.*3307G= ENSP00000354897.4:n.*3307G=
ENST00000413209.6:c.*3247G= ENSP00000409921.2:n.*3247G=
NM_000268.3:c.*3247G= , LRG_511t1:c.*3247G= NP_000259.1:n.*3247G=
NM_016418.5:c.*3307G= , LRG_511t2:c.*3307G= NP_057502.2:n.*3307G=
NM_181828.2:c.*3307G= NP_861966.1:n.*3307G=
NM_181829.2:c.*3307G= NP_861967.1:n.*3307G=
NM_181830.2:c.*3307G= NP_861968.1:n.*3307G=
NM_181832.2:c.*3322G= NP_861970.1:n.*3322G=
NM_181833.2:c.*3247G= NP_861971.1:n.*3247G=
NR_156186.1:n.5594G=
XM_017028810.1:c.*3307G= XP_016884299.1:n.*3307G=
NM_000268.4:c.*3247G= MANE Select NP_000259.1:n.*3247G=
NM_181828.3:c.*3307G= NP_861966.1:n.*3307G=
NM_181829.3:c.*3307G= NP_861967.1:n.*3307G=
NM_181830.3:c.*3307G= NP_861968.1:n.*3307G=
NM_181832.3:c.*3322G= NP_861970.1:n.*3322G=
NR_156186.2:n.5517G=
NM_181833.3:c.*3247G= NP_861971.1:n.*3247G=