Canonical Allele Identifier: CA021446
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201123
ClinVar RCV Id: RCV000182571 RCV001852320 RCV002415775
dbSNP Id: rs794728682
COSMIC: COSM24538 COSM1580357
MyVariant Identifiers: chr22:g.30057329G>A (hg19) chr22:g.29661340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29661340G>A , CM000684.2:g.29661340G>A GRCh38
NC_000022.10:g.30057329G>A , CM000684.1:g.30057329G>A GRCh37
NC_000022.9:g.28387329G>A NCBI36
NG_009057.1:g.62785G>A , LRG_511:g.62785G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.675+3076G>A ENSP00000354529.6:n.675+3076G>A
ENST00000673312.2:c.*304+1G>A ENSP00000500186.2:n.*304+1G>A
ENST00000338641.10:c.810+1G>A MANE Select ENSP00000344666.5:n.810+1G>A
ENST00000361166.9:c.228+3076G>A ENSP00000354529.5:n.228+3076G>A
ENST00000672461.1:c.810+1G>A ENSP00000500919.1:n.810+1G>A
ENST00000672805.1:c.*692+1G>A ENSP00000500295.1:n.*692+1G>A
ENST00000672896.1:c.810+1G>A ENSP00000500117.1:n.810+1G>A
ENST00000673312.1:c.829+1G>A ENSP00000500186.1:n.829+1G>A
ENST00000334961.11:c.561+1G>A ENSP00000335652.7:n.561+1G>A
ENST00000338641.8:c.810+1G>A ENSP00000344666.4:n.810+1G>A
ENST00000353887.8:c.561+1G>A ENSP00000340626.4:n.561+1G>A
ENST00000361166.8:c.810+1G>A ENSP00000354529.4:n.810+1G>A
ENST00000361452.8:c.687+1G>A ENSP00000354897.4:n.687+1G>A
ENST00000361676.8:c.684+1G>A ENSP00000355183.4:n.684+1G>A
ENST00000397789.3:c.810+1G>A ENSP00000380891.3:n.810+1G>A
ENST00000403435.5:c.810+1G>A ENSP00000384029.1:n.810+1G>A
ENST00000403999.7:c.810+1G>A ENSP00000384797.3:n.810+1G>A
ENST00000413209.6:c.447+19055G>A ENSP00000409921.2:n.447+19055G>A
ENST00000432151.5:c.333+1G>A ENSP00000395885.1:n.333+1G>A
NM_000268.3:c.810+1G>A , LRG_511t1:c.810+1G>A NP_000259.1:n.810+1G>A
NM_016418.5:c.810+1G>A , LRG_511t2:c.810+1G>A NP_057502.2:n.810+1G>A
NM_181825.2:c.810+1G>A NP_861546.1:n.810+1G>A
NM_181828.2:c.684+1G>A NP_861966.1:n.684+1G>A
NM_181829.2:c.687+1G>A NP_861967.1:n.687+1G>A
NM_181830.2:c.561+1G>A NP_861968.1:n.561+1G>A
NM_181831.2:c.561+1G>A NP_861969.1:n.561+1G>A
NM_181832.2:c.810+1G>A NP_861970.1:n.810+1G>A
NM_181833.2:c.447+19055G>A NP_861971.1:n.447+19055G>A
NR_156186.1:n.1369+1G>A
XM_017028809.2:c.696+1G>A XP_016884298.1:n.696+1G>A
XM_017028810.1:c.696+1G>A XP_016884299.1:n.696+1G>A
NM_000268.4:c.810+1G>A MANE Select NP_000259.1:n.810+1G>A
NM_181825.3:c.810+1G>A NP_861546.1:n.810+1G>A
NM_181828.3:c.684+1G>A NP_861966.1:n.684+1G>A
NM_181829.3:c.687+1G>A NP_861967.1:n.687+1G>A
NM_181830.3:c.561+1G>A NP_861968.1:n.561+1G>A
NM_181831.3:c.561+1G>A NP_861969.1:n.561+1G>A
NM_181832.3:c.810+1G>A NP_861970.1:n.810+1G>A
NR_156186.2:n.1292+1G>A
NM_181833.3:c.447+19055G>A NP_861971.1:n.447+19055G>A
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