Canonical Allele Identifier: CA2400692660
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695546_29695547delinsAC , CM000684.2:g.29695546_29695547delinsAC GRCh38
NC_000022.10:g.30091535_30091536delinsAC , CM000684.1:g.30091535_30091536delinsAC GRCh37
NC_000022.9:g.28421535_28421536delinsAC NCBI36
NG_009057.1:g.96991_96992delinsAC , LRG_511:g.96991_96992delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*744_*745delinsAC MANE Select ENSP00000344666.5:n.*744_*745delinsAC
ENST00000672461.1:c.*501+303_*501+304delinsAC ENSP00000500919.1:n.*501+303_*501+304delinsAC
ENST00000672896.1:c.*804_*805delinsAC ENSP00000500117.1:n.*804_*805delinsAC
ENST00000338641.8:c.*744_*745delinsAC ENSP00000344666.4:n.*744_*745delinsAC
ENST00000361452.8:c.*804_*805delinsAC ENSP00000354897.4:n.*804_*805delinsAC
ENST00000413209.6:c.*744_*745delinsAC ENSP00000409921.2:n.*744_*745delinsAC
NM_000268.3:c.*744_*745delinsAC , LRG_511t1:c.*744_*745delinsAC NP_000259.1:n.*744_*745delinsAC
NM_016418.5:c.*804_*805delinsAC , LRG_511t2:c.*804_*805delinsAC NP_057502.2:n.*804_*805delinsAC
NM_181828.2:c.*804_*805delinsAC NP_861966.1:n.*804_*805delinsAC
NM_181829.2:c.*804_*805delinsAC NP_861967.1:n.*804_*805delinsAC
NM_181830.2:c.*804_*805delinsAC NP_861968.1:n.*804_*805delinsAC
NM_181832.2:c.*819_*820delinsAC NP_861970.1:n.*819_*820delinsAC
NM_181833.2:c.*744_*745delinsAC NP_861971.1:n.*744_*745delinsAC
NR_156186.1:n.3091_3092delinsAC
XM_017028810.1:c.*804_*805delinsAC XP_016884299.1:n.*804_*805delinsAC
NM_000268.4:c.*744_*745delinsAC MANE Select NP_000259.1:n.*744_*745delinsAC
NM_181828.3:c.*804_*805delinsAC NP_861966.1:n.*804_*805delinsAC
NM_181829.3:c.*804_*805delinsAC NP_861967.1:n.*804_*805delinsAC
NM_181830.3:c.*804_*805delinsAC NP_861968.1:n.*804_*805delinsAC
NM_181832.3:c.*819_*820delinsAC NP_861970.1:n.*819_*820delinsAC
NR_156186.2:n.3014_3015delinsAC
NM_181833.3:c.*744_*745delinsAC NP_861971.1:n.*744_*745delinsAC