Canonical Allele Identifier: CA411153125
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 527706
ClinVar RCV Id: RCV000632651
dbSNP Id: rs1555987645

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29639120C>A , CM000684.2:g.29639120C>A GRCh38
NC_000022.10:g.30035109C>A , CM000684.1:g.30035109C>A GRCh37
NC_000022.9:g.28365109C>A NCBI36
NG_009057.1:g.40565C>A , LRG_511:g.40565C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.271C>A ENSP00000354529.6:p.Pro91Thr
ENST00000673312.2:c.271C>A ENSP00000500186.2:p.Pro91Thr
ENST00000338641.10:c.271C>A MANE Select ENSP00000344666.5:p.Pro91Thr
ENST00000672461.1:c.271C>A ENSP00000500919.1:p.Pro91Thr
ENST00000672805.1:c.*153C>A ENSP00000500295.1:n.*153C>A
ENST00000672896.1:c.271C>A ENSP00000500117.1:p.Pro91Thr
ENST00000673312.1:c.184C>A ENSP00000500186.1:p.Pro62Thr
ENST00000334961.11:c.115-3082C>A ENSP00000335652.7:n.115-3082C>A
ENST00000338641.8:c.271C>A ENSP00000344666.4:p.Pro91Thr
ENST00000353887.8:c.115-3082C>A ENSP00000340626.4:n.115-3082C>A
ENST00000361166.8:c.271C>A ENSP00000354529.4:p.Pro91Thr
ENST00000361452.8:c.240+2244C>A ENSP00000354897.4:n.240+2244C>A
ENST00000361676.8:c.145C>A ENSP00000355183.4:p.Pro49Thr
ENST00000397789.3:c.271C>A ENSP00000380891.3:p.Pro91Thr
ENST00000403435.5:c.271C>A ENSP00000384029.1:p.Pro91Thr
ENST00000403999.7:c.271C>A ENSP00000384797.3:p.Pro91Thr
ENST00000413209.6:c.271C>A ENSP00000409921.2:p.Pro91Thr
ENST00000432151.5:c.115-3082C>A ENSP00000395885.1:n.115-3082C>A
NM_000268.3:c.271C>A , LRG_511t1:c.271C>A NP_000259.1:p.Pro91Thr
NM_016418.5:c.271C>A , LRG_511t2:c.271C>A NP_057502.2:p.Pro91Thr
NM_181825.2:c.271C>A NP_861546.1:p.Pro91Thr
NM_181828.2:c.145C>A NP_861966.1:p.Pro49Thr
NM_181829.2:c.240+2244C>A NP_861967.1:n.240+2244C>A
NM_181830.2:c.115-3082C>A NP_861968.1:n.115-3082C>A
NM_181831.2:c.115-3082C>A NP_861969.1:n.115-3082C>A
NM_181832.2:c.271C>A NP_861970.1:p.Pro91Thr
NM_181833.2:c.271C>A NP_861971.1:p.Pro91Thr
NR_156186.1:n.830C>A
XM_017028809.2:c.157C>A XP_016884298.1:p.Pro53Thr
XM_017028810.1:c.157C>A XP_016884299.1:p.Pro53Thr
NM_000268.4:c.271C>A MANE Select NP_000259.1:p.Pro91Thr
NM_181825.3:c.271C>A NP_861546.1:p.Pro91Thr
NM_181828.3:c.145C>A NP_861966.1:p.Pro49Thr
NM_181829.3:c.240+2244C>A NP_861967.1:n.240+2244C>A
NM_181830.3:c.115-3082C>A NP_861968.1:n.115-3082C>A
NM_181831.3:c.115-3082C>A NP_861969.1:n.115-3082C>A
NM_181832.3:c.271C>A NP_861970.1:p.Pro91Thr
NR_156186.2:n.753C>A
NM_181833.3:c.271C>A NP_861971.1:p.Pro91Thr