Canonical Allele Identifier: CA411153798
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527693
ClinVar RCV Id: RCV000632638
dbSNP Id: rs1555988776

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29642238C>T , CM000684.2:g.29642238C>T GRCh38
NC_000022.10:g.30038227C>T , CM000684.1:g.30038227C>T GRCh37
NC_000022.9:g.28368227C>T NCBI36
NG_009057.1:g.43683C>T , LRG_511:g.43683C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.400C>T ENSP00000354529.6:p.Pro134Ser
ENST00000673312.2:c.400C>T ENSP00000500186.2:p.Pro134Ser
ENST00000338641.10:c.400C>T MANE Select ENSP00000344666.5:p.Pro134Ser
ENST00000672461.1:c.400C>T ENSP00000500919.1:p.Pro134Ser
ENST00000672805.1:c.*282C>T ENSP00000500295.1:n.*282C>T
ENST00000672896.1:c.400C>T ENSP00000500117.1:p.Pro134Ser
ENST00000673312.1:c.313C>T ENSP00000500186.1:p.Pro105Ser
ENST00000334961.11:c.151C>T ENSP00000335652.7:p.Pro51Ser
ENST00000338641.8:c.400C>T ENSP00000344666.4:p.Pro134Ser
ENST00000353887.8:c.151C>T ENSP00000340626.4:p.Pro51Ser
ENST00000361166.8:c.400C>T ENSP00000354529.4:p.Pro134Ser
ENST00000361452.8:c.277C>T ENSP00000354897.4:p.Pro93Ser
ENST00000361676.8:c.274C>T ENSP00000355183.4:p.Pro92Ser
ENST00000397789.3:c.400C>T ENSP00000380891.3:p.Pro134Ser
ENST00000403435.5:c.400C>T ENSP00000384029.1:p.Pro134Ser
ENST00000403999.7:c.400C>T ENSP00000384797.3:p.Pro134Ser
ENST00000413209.6:c.400C>T ENSP00000409921.2:p.Pro134Ser
ENST00000432151.5:c.151C>T ENSP00000395885.1:p.Pro51Ser
NM_000268.3:c.400C>T , LRG_511t1:c.400C>T NP_000259.1:p.Pro134Ser
NM_016418.5:c.400C>T , LRG_511t2:c.400C>T NP_057502.2:p.Pro134Ser
NM_181825.2:c.400C>T NP_861546.1:p.Pro134Ser
NM_181828.2:c.274C>T NP_861966.1:p.Pro92Ser
NM_181829.2:c.277C>T NP_861967.1:p.Pro93Ser
NM_181830.2:c.151C>T NP_861968.1:p.Pro51Ser
NM_181831.2:c.151C>T NP_861969.1:p.Pro51Ser
NM_181832.2:c.400C>T NP_861970.1:p.Pro134Ser
NM_181833.2:c.400C>T NP_861971.1:p.Pro134Ser
NR_156186.1:n.959C>T
XM_017028809.2:c.286C>T XP_016884298.1:p.Pro96Ser
XM_017028810.1:c.286C>T XP_016884299.1:p.Pro96Ser
NM_000268.4:c.400C>T MANE Select NP_000259.1:p.Pro134Ser
NM_181825.3:c.400C>T NP_861546.1:p.Pro134Ser
NM_181828.3:c.274C>T NP_861966.1:p.Pro92Ser
NM_181829.3:c.277C>T NP_861967.1:p.Pro93Ser
NM_181830.3:c.151C>T NP_861968.1:p.Pro51Ser
NM_181831.3:c.151C>T NP_861969.1:p.Pro51Ser
NM_181832.3:c.400C>T NP_861970.1:p.Pro134Ser
NR_156186.2:n.882C>T
NM_181833.3:c.400C>T NP_861971.1:p.Pro134Ser