Canonical Allele Identifier: CA029739
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237617
dbSNP Id: rs370604189
COSMIC: COSM22265

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673494G>T , CM000684.2:g.29673494G>T GRCh38
NC_000022.10:g.30069483G>T , CM000684.1:g.30069483G>T GRCh37
NC_000022.9:g.28399483G>T NCBI36
NG_009057.1:g.74939G>T , LRG_511:g.74939G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.1205+8G>T ENSP00000354529.6:n.1205+8G>T
ENST00000673312.2:c.*834+8G>T ENSP00000500186.2:n.*834+8G>T
ENST00000338641.10:c.1340+8G>T MANE Select ENSP00000344666.5:n.1340+8G>T
ENST00000361166.9:c.758+8G>T ENSP00000354529.5:n.758+8G>T
ENST00000672461.1:c.1340+8G>T ENSP00000500919.1:n.1340+8G>T
ENST00000672805.1:c.*1222+8G>T ENSP00000500295.1:n.*1222+8G>T
ENST00000672896.1:c.1340+8G>T ENSP00000500117.1:n.1340+8G>T
ENST00000673312.1:c.1359+8G>T ENSP00000500186.1:n.1359+8G>T
ENST00000334961.11:c.1091+8G>T ENSP00000335652.7:n.1091+8G>T
ENST00000338641.8:c.1340+8G>T ENSP00000344666.4:n.1340+8G>T
ENST00000353887.8:c.1091+8G>T ENSP00000340626.4:n.1091+8G>T
ENST00000361166.8:c.1340+8G>T ENSP00000354529.4:n.1340+8G>T
ENST00000361452.8:c.1217+8G>T ENSP00000354897.4:n.1217+8G>T
ENST00000361676.8:c.1214+8G>T ENSP00000355183.4:n.1214+8G>T
ENST00000397789.3:c.1340+8G>T ENSP00000380891.3:n.1340+8G>T
ENST00000403435.5:c.1253+8G>T ENSP00000384029.1:n.1253+8G>T
ENST00000403999.7:c.1340+8G>T ENSP00000384797.3:n.1340+8G>T
ENST00000413209.6:c.448-21258G>T ENSP00000409921.2:n.448-21258G>T
ENST00000432151.5:c.523-1342G>T ENSP00000395885.1:n.523-1342G>T
NM_000268.3:c.1340+8G>T , LRG_511t1:c.1340+8G>T NP_000259.1:n.1340+8G>T
NM_016418.5:c.1340+8G>T , LRG_511t2:c.1340+8G>T NP_057502.2:n.1340+8G>T
NM_181825.2:c.1340+8G>T NP_861546.1:n.1340+8G>T
NM_181828.2:c.1214+8G>T NP_861966.1:n.1214+8G>T
NM_181829.2:c.1217+8G>T NP_861967.1:n.1217+8G>T
NM_181830.2:c.1091+8G>T NP_861968.1:n.1091+8G>T
NM_181831.2:c.1091+8G>T NP_861969.1:n.1091+8G>T
NM_181832.2:c.1340+8G>T NP_861970.1:n.1340+8G>T
NM_181833.2:c.448-21258G>T NP_861971.1:n.448-21258G>T
NR_156186.1:n.1899+8G>T
XM_017028809.2:c.1226+8G>T XP_016884298.1:n.1226+8G>T
XM_017028810.1:c.1226+8G>T XP_016884299.1:n.1226+8G>T
NM_000268.4:c.1340+8G>T MANE Select NP_000259.1:n.1340+8G>T
NM_181825.3:c.1340+8G>T NP_861546.1:n.1340+8G>T
NM_181828.3:c.1214+8G>T NP_861966.1:n.1214+8G>T
NM_181829.3:c.1217+8G>T NP_861967.1:n.1217+8G>T
NM_181830.3:c.1091+8G>T NP_861968.1:n.1091+8G>T
NM_181831.3:c.1091+8G>T NP_861969.1:n.1091+8G>T
NM_181832.3:c.1340+8G>T NP_861970.1:n.1340+8G>T
NR_156186.2:n.1822+8G>T
NM_181833.3:c.448-21258G>T NP_861971.1:n.448-21258G>T