Canonical Allele Identifier: CA10645252
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341090
ClinVar RCV Id: RCV000361071
dbSNP Id: rs776610927

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695363C>G , CM000684.2:g.29695363C>G GRCh38
NC_000022.10:g.30091352C>G , CM000684.1:g.30091352C>G GRCh37
NC_000022.9:g.28421352C>G NCBI36
NG_009057.1:g.96808C>G , LRG_511:g.96808C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*561C>G MANE Select ENSP00000344666.5:n.*561C>G
ENST00000672461.1:c.*501+120C>G ENSP00000500919.1:n.*501+120C>G
ENST00000672896.1:c.*621C>G ENSP00000500117.1:n.*621C>G
ENST00000338641.8:c.*561C>G ENSP00000344666.4:n.*561C>G
ENST00000361452.8:c.*621C>G ENSP00000354897.4:n.*621C>G
ENST00000413209.6:c.*561C>G ENSP00000409921.2:n.*561C>G
NM_000268.3:c.*561C>G , LRG_511t1:c.*561C>G NP_000259.1:n.*561C>G
NM_016418.5:c.*621C>G , LRG_511t2:c.*621C>G NP_057502.2:n.*621C>G
NM_181828.2:c.*621C>G NP_861966.1:n.*621C>G
NM_181829.2:c.*621C>G NP_861967.1:n.*621C>G
NM_181830.2:c.*621C>G NP_861968.1:n.*621C>G
NM_181832.2:c.*636C>G NP_861970.1:n.*636C>G
NM_181833.2:c.*561C>G NP_861971.1:n.*561C>G
NR_156186.1:n.2908C>G
XM_017028810.1:c.*621C>G XP_016884299.1:n.*621C>G
NM_000268.4:c.*561C>G MANE Select NP_000259.1:n.*561C>G
NM_181828.3:c.*621C>G NP_861966.1:n.*621C>G
NM_181829.3:c.*621C>G NP_861967.1:n.*621C>G
NM_181830.3:c.*621C>G NP_861968.1:n.*621C>G
NM_181832.3:c.*636C>G NP_861970.1:n.*636C>G
NR_156186.2:n.2831C>G
NM_181833.3:c.*561C>G NP_861971.1:n.*561C>G