Canonical Allele Identifier: CA2818695211
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697898G>A , CM000684.2:g.29697898G>A GRCh38
NC_000022.10:g.30093887G>A , CM000684.1:g.30093887G>A GRCh37
NC_000022.9:g.28423887G>A NCBI36
NG_009057.1:g.99343G>A , LRG_511:g.99343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*3096G>A MANE Select ENSP00000344666.5:n.*3096G>A
ENST00000672896.1:c.*3156G>A ENSP00000500117.1:n.*3156G>A
ENST00000338641.8:c.*3096G>A ENSP00000344666.4:n.*3096G>A
ENST00000361452.8:c.*3156G>A ENSP00000354897.4:n.*3156G>A
ENST00000413209.6:c.*3096G>A ENSP00000409921.2:n.*3096G>A
NM_000268.3:c.*3096G>A , LRG_511t1:c.*3096G>A NP_000259.1:n.*3096G>A
NM_016418.5:c.*3156G>A , LRG_511t2:c.*3156G>A NP_057502.2:n.*3156G>A
NM_181828.2:c.*3156G>A NP_861966.1:n.*3156G>A
NM_181829.2:c.*3156G>A NP_861967.1:n.*3156G>A
NM_181830.2:c.*3156G>A NP_861968.1:n.*3156G>A
NM_181832.2:c.*3171G>A NP_861970.1:n.*3171G>A
NM_181833.2:c.*3096G>A NP_861971.1:n.*3096G>A
NR_156186.1:n.5443G>A
XM_017028810.1:c.*3156G>A XP_016884299.1:n.*3156G>A
NM_000268.4:c.*3096G>A MANE Select NP_000259.1:n.*3096G>A
NM_181828.3:c.*3156G>A NP_861966.1:n.*3156G>A
NM_181829.3:c.*3156G>A NP_861967.1:n.*3156G>A
NM_181830.3:c.*3156G>A NP_861968.1:n.*3156G>A
NM_181832.3:c.*3171G>A NP_861970.1:n.*3171G>A
NR_156186.2:n.5366G>A
NM_181833.3:c.*3096G>A NP_861971.1:n.*3096G>A