Canonical Allele Identifier: CA2400692592
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695402_29695403delinsTG , CM000684.2:g.29695402_29695403delinsTG GRCh38
NC_000022.10:g.30091391_30091392delinsTG , CM000684.1:g.30091391_30091392delinsTG GRCh37
NC_000022.9:g.28421391_28421392delinsTG NCBI36
NG_009057.1:g.96847_96848delinsTG , LRG_511:g.96847_96848delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*600_*601delinsTG MANE Select ENSP00000344666.5:n.*600_*601delinsTG
ENST00000672461.1:c.*501+159_*501+160delinsTG ENSP00000500919.1:n.*501+159_*501+160delinsTG
ENST00000672896.1:c.*660_*661delinsTG ENSP00000500117.1:n.*660_*661delinsTG
ENST00000338641.8:c.*600_*601delinsTG ENSP00000344666.4:n.*600_*601delinsTG
ENST00000361452.8:c.*660_*661delinsTG ENSP00000354897.4:n.*660_*661delinsTG
ENST00000413209.6:c.*600_*601delinsTG ENSP00000409921.2:n.*600_*601delinsTG
NM_000268.3:c.*600_*601delinsTG , LRG_511t1:c.*600_*601delinsTG NP_000259.1:n.*600_*601delinsTG
NM_016418.5:c.*660_*661delinsTG , LRG_511t2:c.*660_*661delinsTG NP_057502.2:n.*660_*661delinsTG
NM_181828.2:c.*660_*661delinsTG NP_861966.1:n.*660_*661delinsTG
NM_181829.2:c.*660_*661delinsTG NP_861967.1:n.*660_*661delinsTG
NM_181830.2:c.*660_*661delinsTG NP_861968.1:n.*660_*661delinsTG
NM_181832.2:c.*675_*676delinsTG NP_861970.1:n.*675_*676delinsTG
NM_181833.2:c.*600_*601delinsTG NP_861971.1:n.*600_*601delinsTG
NR_156186.1:n.2947_2948delinsTG
XM_017028810.1:c.*660_*661delinsTG XP_016884299.1:n.*660_*661delinsTG
NM_000268.4:c.*600_*601delinsTG MANE Select NP_000259.1:n.*600_*601delinsTG
NM_181828.3:c.*660_*661delinsTG NP_861966.1:n.*660_*661delinsTG
NM_181829.3:c.*660_*661delinsTG NP_861967.1:n.*660_*661delinsTG
NM_181830.3:c.*660_*661delinsTG NP_861968.1:n.*660_*661delinsTG
NM_181832.3:c.*675_*676delinsTG NP_861970.1:n.*675_*676delinsTG
NR_156186.2:n.2870_2871delinsTG
NM_181833.3:c.*600_*601delinsTG NP_861971.1:n.*600_*601delinsTG