Canonical Allele Identifier: CA920353659
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs1601659817

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678504_29678505insCAAG , CM000684.2:g.29678504_29678505insCAAG GRCh38
NC_000022.10:g.30074493_30074494insCAAG , CM000684.1:g.30074493_30074494insCAAG GRCh37
NC_000022.9:g.28404493_28404494insCAAG NCBI36
NG_009057.1:g.79949_79950insCAAG , LRG_511:g.79949_79950insCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1439+181_1439+182insCAAG ENSP00000354529.6:n.1439+181_1439+182insCAAG
ENST00000673312.2:c.*1068+181_*1068+182insCAAG ENSP00000500186.2:n.*1068+181_*1068+182insCAAG
ENST00000338641.10:c.1574+181_1574+182insCAAG MANE Select ENSP00000344666.5:n.1574+181_1574+182insCAAG
ENST00000361166.9:c.992+181_992+182insCAAG ENSP00000354529.5:n.992+181_992+182insCAAG
ENST00000672461.1:c.1574+181_1574+182insCAAG ENSP00000500919.1:n.1574+181_1574+182insCAAG
ENST00000672805.1:c.*1456+181_*1456+182insCAAG ENSP00000500295.1:n.*1456+181_*1456+182insCAAG
ENST00000672896.1:c.1574+181_1574+182insCAAG ENSP00000500117.1:n.1574+181_1574+182insCAAG
ENST00000673312.1:c.1593+181_1593+182insCAAG ENSP00000500186.1:n.1593+181_1593+182insCAAG
ENST00000334961.11:c.1325+181_1325+182insCAAG ENSP00000335652.7:n.1325+181_1325+182insCAAG
ENST00000338641.8:c.1574+181_1574+182insCAAG ENSP00000344666.4:n.1574+181_1574+182insCAAG
ENST00000353887.8:c.1325+181_1325+182insCAAG ENSP00000340626.4:n.1325+181_1325+182insCAAG
ENST00000361166.8:c.1574+181_1574+182insCAAG ENSP00000354529.4:n.1574+181_1574+182insCAAG
ENST00000361452.8:c.1451+181_1451+182insCAAG ENSP00000354897.4:n.1451+181_1451+182insCAAG
ENST00000361676.8:c.1448+181_1448+182insCAAG ENSP00000355183.4:n.1448+181_1448+182insCAAG
ENST00000397789.3:c.1574+181_1574+182insCAAG ENSP00000380891.3:n.1574+181_1574+182insCAAG
ENST00000403435.5:c.1487+181_1487+182insCAAG ENSP00000384029.1:n.1487+181_1487+182insCAAG
ENST00000403999.7:c.1574+181_1574+182insCAAG ENSP00000384797.3:n.1574+181_1574+182insCAAG
ENST00000413209.6:c.448-16248_448-16247insCAAG ENSP00000409921.2:n.448-16248_448-16247insCAAG
ENST00000432151.5:c.*93+181_*93+182insCAAG ENSP00000395885.1:n.*93+181_*93+182insCAAG
NM_000268.3:c.1574+181_1574+182insCAAG , LRG_511t1:c.1574+181_1574+182insCAAG NP_000259.1:n.1574+181_1574+182insCAAG
NM_016418.5:c.1574+181_1574+182insCAAG , LRG_511t2:c.1574+181_1574+182insCAAG NP_057502.2:n.1574+181_1574+182insCAAG
NM_181825.2:c.1574+181_1574+182insCAAG NP_861546.1:n.1574+181_1574+182insCAAG
NM_181828.2:c.1448+181_1448+182insCAAG NP_861966.1:n.1448+181_1448+182insCAAG
NM_181829.2:c.1451+181_1451+182insCAAG NP_861967.1:n.1451+181_1451+182insCAAG
NM_181830.2:c.1325+181_1325+182insCAAG NP_861968.1:n.1325+181_1325+182insCAAG
NM_181831.2:c.1325+181_1325+182insCAAG NP_861969.1:n.1325+181_1325+182insCAAG
NM_181832.2:c.1574+181_1574+182insCAAG NP_861970.1:n.1574+181_1574+182insCAAG
NM_181833.2:c.448-16248_448-16247insCAAG NP_861971.1:n.448-16248_448-16247insCAAG
NR_156186.1:n.2133+181_2133+182insCAAG
XM_017028809.2:c.1460+181_1460+182insCAAG XP_016884298.1:n.1460+181_1460+182insCAAG
XM_017028810.1:c.1460+181_1460+182insCAAG XP_016884299.1:n.1460+181_1460+182insCAAG
NM_000268.4:c.1574+181_1574+182insCAAG MANE Select NP_000259.1:n.1574+181_1574+182insCAAG
NM_181825.3:c.1574+181_1574+182insCAAG NP_861546.1:n.1574+181_1574+182insCAAG
NM_181828.3:c.1448+181_1448+182insCAAG NP_861966.1:n.1448+181_1448+182insCAAG
NM_181829.3:c.1451+181_1451+182insCAAG NP_861967.1:n.1451+181_1451+182insCAAG
NM_181830.3:c.1325+181_1325+182insCAAG NP_861968.1:n.1325+181_1325+182insCAAG
NM_181831.3:c.1325+181_1325+182insCAAG NP_861969.1:n.1325+181_1325+182insCAAG
NM_181832.3:c.1574+181_1574+182insCAAG NP_861970.1:n.1574+181_1574+182insCAAG
NR_156186.2:n.2056+181_2056+182insCAAG
NM_181833.3:c.448-16248_448-16247insCAAG NP_861971.1:n.448-16248_448-16247insCAAG