Canonical Allele Identifier: CA2400692539
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695291G= , CM000684.2:g.29695291G= GRCh38
NC_000022.10:g.30091280G= , CM000684.1:g.30091280G= GRCh37
NC_000022.9:g.28421280G= NCBI36
NG_009057.1:g.96736G= , LRG_511:g.96736G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*489G= MANE Select ENSP00000344666.5:n.*489G=
ENST00000672461.1:c.*501+48G= ENSP00000500919.1:n.*501+48G=
ENST00000672896.1:c.*549G= ENSP00000500117.1:n.*549G=
ENST00000338641.8:c.*489G= ENSP00000344666.4:n.*489G=
ENST00000361452.8:c.*549G= ENSP00000354897.4:n.*549G=
ENST00000413209.6:c.*489G= ENSP00000409921.2:n.*489G=
NM_000268.3:c.*489G= , LRG_511t1:c.*489G= NP_000259.1:n.*489G=
NM_016418.5:c.*549G= , LRG_511t2:c.*549G= NP_057502.2:n.*549G=
NM_181828.2:c.*549G= NP_861966.1:n.*549G=
NM_181829.2:c.*549G= NP_861967.1:n.*549G=
NM_181830.2:c.*549G= NP_861968.1:n.*549G=
NM_181832.2:c.*564G= NP_861970.1:n.*564G=
NM_181833.2:c.*489G= NP_861971.1:n.*489G=
NR_156186.1:n.2836G=
XM_017028810.1:c.*549G= XP_016884299.1:n.*549G=
NM_000268.4:c.*489G= MANE Select NP_000259.1:n.*489G=
NM_181828.3:c.*549G= NP_861966.1:n.*549G=
NM_181829.3:c.*549G= NP_861967.1:n.*549G=
NM_181830.3:c.*549G= NP_861968.1:n.*549G=
NM_181832.3:c.*564G= NP_861970.1:n.*564G=
NR_156186.2:n.2759G=
NM_181833.3:c.*489G= NP_861971.1:n.*489G=