Canonical Allele Identifier: CA2400692396
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694999_29695011delinsCTCATGGCGTTCT , CM000684.2:g.29694999_29695011delinsCTCATGGCGTTCT GRCh38
NC_000022.10:g.30090988_30091000delinsCTCATGGCGTTCT , CM000684.1:g.30090988_30091000delinsCTCATGGCGTTCT GRCh37
NC_000022.9:g.28420988_28421000delinsCTCATGGCGTTCT NCBI36
NG_009057.1:g.96444_96456delinsCTCATGGCGTTCT , LRG_511:g.96444_96456delinsCTCATGGCGTTCT

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.*197_*209delinsCTCATGGCGTTCT ENSP00000354529.6:n.*197_*209delinsCTCATGGCGTTCT
ENST00000673312.2:c.*1479_*1491delinsCTCATGGCGTTCT ENSP00000500186.2:n.*1479_*1491delinsCTCATGGCGTTCT
ENST00000338641.10:c.*197_*209delinsCTCATGGCGTTCT MANE Select ENSP00000344666.5:n.*197_*209delinsCTCATGGCGTTCT
ENST00000361166.9:c.1403_1415delinsCTCATGGCGTTCT ENSP00000354529.5:n.1403_1415delinsCTCATGGCGTTCT
ENST00000672461.1:c.*257_*269delinsCTCATGGCGTTCT ENSP00000500919.1:n.*257_*269delinsCTCATGGCGTTCT
ENST00000672896.1:c.*257_*269delinsCTCATGGCGTTCT ENSP00000500117.1:n.*257_*269delinsCTCATGGCGTTCT
ENST00000673312.1:c.2004_2016delinsCTCATGGCGTTCT ENSP00000500186.1:n.2004_2016delinsCTCATGGCGTTCT
ENST00000338641.8:c.*197_*209delinsCTCATGGCGTTCT ENSP00000344666.4:n.*197_*209delinsCTCATGGCGTTCT
ENST00000361452.8:c.*257_*269delinsCTCATGGCGTTCT ENSP00000354897.4:n.*257_*269delinsCTCATGGCGTTCT
ENST00000413209.6:c.*197_*209delinsCTCATGGCGTTCT ENSP00000409921.2:n.*197_*209delinsCTCATGGCGTTCT
NM_000268.3:c.*197_*209delinsCTCATGGCGTTCT , LRG_511t1:c.*197_*209delinsCTCATGGCGTTCT NP_000259.1:n.*197_*209delinsCTCATGGCGTTCT
NM_016418.5:c.*257_*269delinsCTCATGGCGTTCT , LRG_511t2:c.*257_*269delinsCTCATGGCGTTCT NP_057502.2:n.*257_*269delinsCTCATGGCGTTCT
NM_181828.2:c.*257_*269delinsCTCATGGCGTTCT NP_861966.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181829.2:c.*257_*269delinsCTCATGGCGTTCT NP_861967.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181830.2:c.*257_*269delinsCTCATGGCGTTCT NP_861968.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181832.2:c.*272_*284delinsCTCATGGCGTTCT NP_861970.1:n.*272_*284delinsCTCATGGCGTTCT
NM_181833.2:c.*197_*209delinsCTCATGGCGTTCT NP_861971.1:n.*197_*209delinsCTCATGGCGTTCT
NR_156186.1:n.2544_2556delinsCTCATGGCGTTCT
XM_017028809.2:c.*197_*209delinsCTCATGGCGTTCT XP_016884298.1:n.*197_*209delinsCTCATGGCGTTCT
XM_017028810.1:c.*257_*269delinsCTCATGGCGTTCT XP_016884299.1:n.*257_*269delinsCTCATGGCGTTCT
NM_000268.4:c.*197_*209delinsCTCATGGCGTTCT MANE Select NP_000259.1:n.*197_*209delinsCTCATGGCGTTCT
NM_181828.3:c.*257_*269delinsCTCATGGCGTTCT NP_861966.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181829.3:c.*257_*269delinsCTCATGGCGTTCT NP_861967.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181830.3:c.*257_*269delinsCTCATGGCGTTCT NP_861968.1:n.*257_*269delinsCTCATGGCGTTCT
NM_181832.3:c.*272_*284delinsCTCATGGCGTTCT NP_861970.1:n.*272_*284delinsCTCATGGCGTTCT
NR_156186.2:n.2467_2479delinsCTCATGGCGTTCT
NM_181833.3:c.*197_*209delinsCTCATGGCGTTCT NP_861971.1:n.*197_*209delinsCTCATGGCGTTCT