Canonical Allele Identifier: CA2400693584
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2067585721

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697517_29697518insAA , CM000684.2:g.29697517_29697518insAA GRCh38
NC_000022.10:g.30093506_30093507insAA , CM000684.1:g.30093506_30093507insAA GRCh37
NC_000022.9:g.28423506_28423507insAA NCBI36
NG_009057.1:g.98962_98963insAA , LRG_511:g.98962_98963insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*2715_*2716insAA MANE Select ENSP00000344666.5:n.*2715_*2716insAA
ENST00000672461.1:c.*758_*759insAA ENSP00000500919.1:n.*758_*759insAA
ENST00000672896.1:c.*2775_*2776insAA ENSP00000500117.1:n.*2775_*2776insAA
ENST00000338641.8:c.*2715_*2716insAA ENSP00000344666.4:n.*2715_*2716insAA
ENST00000361452.8:c.*2775_*2776insAA ENSP00000354897.4:n.*2775_*2776insAA
ENST00000413209.6:c.*2715_*2716insAA ENSP00000409921.2:n.*2715_*2716insAA
NM_000268.3:c.*2715_*2716insAA , LRG_511t1:c.*2715_*2716insAA NP_000259.1:n.*2715_*2716insAA
NM_016418.5:c.*2775_*2776insAA , LRG_511t2:c.*2775_*2776insAA NP_057502.2:n.*2775_*2776insAA
NM_181828.2:c.*2775_*2776insAA NP_861966.1:n.*2775_*2776insAA
NM_181829.2:c.*2775_*2776insAA NP_861967.1:n.*2775_*2776insAA
NM_181830.2:c.*2775_*2776insAA NP_861968.1:n.*2775_*2776insAA
NM_181832.2:c.*2790_*2791insAA NP_861970.1:n.*2790_*2791insAA
NM_181833.2:c.*2715_*2716insAA NP_861971.1:n.*2715_*2716insAA
NR_156186.1:n.5062_5063insAA
XM_017028810.1:c.*2775_*2776insAA XP_016884299.1:n.*2775_*2776insAA
NM_000268.4:c.*2715_*2716insAA MANE Select NP_000259.1:n.*2715_*2716insAA
NM_181828.3:c.*2775_*2776insAA NP_861966.1:n.*2775_*2776insAA
NM_181829.3:c.*2775_*2776insAA NP_861967.1:n.*2775_*2776insAA
NM_181830.3:c.*2775_*2776insAA NP_861968.1:n.*2775_*2776insAA
NM_181832.3:c.*2790_*2791insAA NP_861970.1:n.*2790_*2791insAA
NR_156186.2:n.4985_4986insAA
NM_181833.3:c.*2715_*2716insAA NP_861971.1:n.*2715_*2716insAA