Canonical Allele Identifier: CA645601016
Community Standard Title: NM_000268.4(NF2):c.527dup (p.Tyr177ValfsTer26)
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29655604dup , CM000684.2:g.29655604dup GRCh38
NC_000022.10:g.30051593dup , CM000684.1:g.30051593dup GRCh37
NC_000022.9:g.28381593dup NCBI36
NG_009057.1:g.57049dup , LRG_511:g.57049dup

Transcript Alleles

HGVS Amino-acid Change
NM_000268.4:c.527dup MANE Select NP_000259.1:p.Tyr177ValfsTer26
ENST00000338641.10:c.527dup MANE Select ENSP00000344666.5:p.Tyr177ValfsTer26
NM_000268.3:c.527dup , LRG_511t1:c.527dup NP_000259.1:p.Tyr177ValfsTer26
NM_016418.5:c.527dup , LRG_511t2:c.527dup NP_057502.2:p.Tyr177ValfsTer26
NM_181825.2:c.527dup NP_861546.1:p.Tyr177ValfsTer26
NM_181825.3:c.527dup NP_861546.1:p.Tyr177ValfsTer26
NM_181828.2:c.401dup NP_861966.1:p.Tyr135ValfsTer26
NM_181828.3:c.401dup NP_861966.1:p.Tyr135ValfsTer26
NM_181829.2:c.404dup NP_861967.1:p.Tyr136ValfsTer26
NM_181829.3:c.404dup NP_861967.1:p.Tyr136ValfsTer26
NM_181830.2:c.278dup NP_861968.1:p.Tyr94ValfsTer26
NM_181830.3:c.278dup NP_861968.1:p.Tyr94ValfsTer26
NM_181831.2:c.278dup NP_861969.1:p.Tyr94ValfsTer26
NM_181831.3:c.278dup NP_861969.1:p.Tyr94ValfsTer26
NM_181832.2:c.527dup NP_861970.1:p.Tyr177ValfsTer26
NM_181832.3:c.527dup NP_861970.1:p.Tyr177ValfsTer26
NM_181833.2:c.447+13319dup NP_861971.1:n.447+13319dup
NM_181833.3:c.447+13319dup NP_861971.1:n.447+13319dup
NR_156186.1:n.1086dup
NR_156186.2:n.1009dup
ENST00000334961.11:c.278dup ENSP00000335652.7:p.Tyr94ValfsTer26
ENST00000338641.8:c.527dup ENSP00000344666.4:p.Tyr177ValfsTer26
ENST00000353887.8:c.278dup ENSP00000340626.4:p.Tyr94ValfsTer26
ENST00000361166.10:c.527dup ENSP00000354529.6:p.Tyr177ValfsTer26
ENST00000361166.8:c.527dup ENSP00000354529.4:p.Tyr177ValfsTer26
ENST00000361166.9:c.80dup ENSP00000354529.5:p.Tyr28ValfsTer26
ENST00000361452.8:c.404dup ENSP00000354897.4:p.Tyr136ValfsTer26
ENST00000361676.8:c.401dup ENSP00000355183.4:p.Tyr135ValfsTer26
ENST00000397789.3:c.527dup ENSP00000380891.3:p.Tyr177ValfsTer26
ENST00000403435.5:c.527dup ENSP00000384029.1:p.Tyr177ValfsTer26
ENST00000403999.7:c.527dup ENSP00000384797.3:p.Tyr177ValfsTer26
ENST00000413209.6:c.447+13319dup ENSP00000409921.2:n.447+13319dup
ENST00000432151.5:c.199-5601dup ENSP00000395885.1:n.199-5601dup
ENST00000672461.1:c.527dup ENSP00000500919.1:p.Tyr177ValfsTer26
ENST00000672805.1:c.*409dup ENSP00000500295.1:n.*409dup
ENST00000672896.1:c.527dup ENSP00000500117.1:p.Tyr177ValfsTer26
ENST00000673312.1:c.546dup ENSP00000500186.1:n.546dup
ENST00000673312.2:c.*21dup ENSP00000500186.2:n.*21dup
XM_017028809.2:c.413dup XP_016884298.1:p.Tyr139ValfsTer26
XM_017028810.1:c.413dup XP_016884299.1:p.Tyr139ValfsTer26