Canonical Allele Identifier: CA037304
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527695
dbSNP Id: rs201214090

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673378G>A , CM000684.2:g.29673378G>A GRCh38
NC_000022.10:g.30069367G>A , CM000684.1:g.30069367G>A GRCh37
NC_000022.9:g.28399367G>A NCBI36
NG_009057.1:g.74823G>A , LRG_511:g.74823G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.1232G>A MANE Select ENSP00000344666.5:p.Arg411His
ENST00000361166.9:n.650G>A ENSP00000354529.5:p.Arg217His
ENST00000672461.1:c.1232G>A ENSP00000500919.1:p.Arg411His
ENST00000672805.1:c.*1114G>A ENSP00000500295.1:p.=
ENST00000672896.1:c.1232G>A ENSP00000500117.1:p.Arg411His
ENST00000673312.1:n.1251G>A ENSP00000500186.1:p.=
ENST00000334961.11:c.983G>A ENSP00000335652.7:p.Arg328His
ENST00000338641.8:c.1232G>A ENSP00000344666.4:p.Arg411His
ENST00000353887.8:c.983G>A ENSP00000340626.4:p.Arg328His
ENST00000361166.8:n.1232G>A ENSP00000354529.4:p.Arg411His
ENST00000361452.8:c.1109G>A ENSP00000354897.4:p.Arg370His
ENST00000361676.8:n.1106G>A ENSP00000355183.4:p.Arg369His
ENST00000397789.3:n.1232G>A ENSP00000380891.3:p.Arg411His
ENST00000403435.5:c.1145G>A ENSP00000384029.1:p.Arg382His
ENST00000403999.7:c.1232G>A ENSP00000384797.3:p.Arg411His
ENST00000413209.6:c.448-21374G>A ENSP00000409921.2:p.=
ENST00000432151.5:c.523-1458G>A ENSP00000395885.1:p.=
NM_000268.3:c.1232G>A , LRG_511t1:c.1232G>A NP_000259.1:p.Arg411His
NM_016418.5:c.1232G>A , LRG_511t2:c.1232G>A NP_057502.2:p.Arg411His
NM_181825.2:c.1232G>A NP_861546.1:p.Arg411His
NM_181828.2:c.1106G>A NP_861966.1:p.Arg369His
NM_181829.2:c.1109G>A NP_861967.1:p.Arg370His
NM_181830.2:c.983G>A NP_861968.1:p.Arg328His
NM_181831.2:c.983G>A NP_861969.1:p.Arg328His
NM_181832.2:c.1232G>A NP_861970.1:p.Arg411His
NM_181833.2:c.448-21374G>A NP_861971.1:p.=
NR_156186.1:n.1791G>A
XM_017028809.2:c.1118G>A XP_016884298.1:p.Arg373His
XM_017028810.1:c.1118G>A XP_016884299.1:p.Arg373His
NM_000268.4:c.1232G>A MANE Select NP_000259.1:p.Arg411His
NM_181825.3:c.1232G>A NP_861546.1:p.Arg411His
NM_181828.3:c.1106G>A NP_861966.1:p.Arg369His
NM_181829.3:c.1109G>A NP_861967.1:p.Arg370His
NM_181830.3:c.983G>A NP_861968.1:p.Arg328His
NM_181831.3:c.983G>A NP_861969.1:p.Arg328His
NM_181832.3:c.1232G>A NP_861970.1:p.Arg411His
NR_156186.2:n.1714G>A
NM_181833.3:c.448-21374G>A NP_861971.1:p.=