Canonical Allele Identifier: CA021304
Gene: NF2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3293
ClinVar RCV Id: RCV000003454
dbSNP Id: rs74315501

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29673365C>T , CM000684.2:g.29673365C>T GRCh38
NC_000022.10:g.30069354C>T , CM000684.1:g.30069354C>T GRCh37
NC_000022.9:g.28399354C>T NCBI36
NG_009057.1:g.74810C>T , LRG_511:g.74810C>T

Transcript Alleles

HGVS Amino-acid change
NM_000268.3:c.1219C>T , LRG_511t1:c.1219C>T NP_000259.1:p.Gln407Ter
NM_016418.5:c.1219C>T , LRG_511t2:c.1219C>T NP_057502.2:p.Gln407Ter
NM_181825.2:c.1219C>T VV NP_861546.1:p.Gln407Ter
NM_181828.2:c.1093C>T VV NP_861966.1:p.Gln365Ter
NM_181829.2:c.1096C>T VV NP_861967.1:p.Gln366Ter
NM_181830.2:c.970C>T VV NP_861968.1:p.Gln324Ter
NM_181831.2:c.970C>T VV NP_861969.1:p.Gln324Ter
NM_181832.2:c.1219C>T VV NP_861970.1:p.Gln407Ter
NM_181833.2:c.448-21387C>T VV NP_861971.1:p.=
NR_156186.1:n.1778C>T
XM_017028809.2:c.1105C>T XP_016884298.1:p.Gln369Ter
XM_017028810.1:c.1105C>T XP_016884299.1:p.Gln369Ter
ENST00000334961.11:c.970C>T ENSP00000335652.7:p.Gln324Ter
ENST00000338641.8:c.1219C>T ENSP00000344666.4:p.Gln407Ter
ENST00000353887.8:c.970C>T ENSP00000340626.4:p.Gln324Ter
ENST00000361166.8:n.1219C>T ENSP00000354529.4:p.Gln407Ter
ENST00000361452.8:c.1096C>T ENSP00000354897.4:p.Gln366Ter
ENST00000361676.8:n.1093C>T ENSP00000355183.4:p.Gln365Ter
ENST00000397789.3:n.1219C>T ENSP00000380891.3:p.Gln407Ter
ENST00000403435.5:c.1132C>T ENSP00000384029.1:p.Gln378Ter
ENST00000403999.7:c.1219C>T ENSP00000384797.3:p.Gln407Ter
ENST00000413209.6:c.448-21387C>T ENSP00000409921.2:p.=
ENST00000432151.5:c.523-1471C>T ENSP00000395885.1:p.=