Canonical Allele Identifier: CA10650993
Gene: NF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 341092
ClinVar RCV Id: RCV000316787
dbSNP Id: rs886057347

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695389G>T , CM000684.2:g.29695389G>T GRCh38
NC_000022.10:g.30091378G>T , CM000684.1:g.30091378G>T GRCh37
NC_000022.9:g.28421378G>T NCBI36
NG_009057.1:g.96834G>T , LRG_511:g.96834G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*587G>T MANE Select ENSP00000344666.5:n.*587G>T
ENST00000672461.1:c.*501+146G>T ENSP00000500919.1:n.*501+146G>T
ENST00000672896.1:c.*647G>T ENSP00000500117.1:n.*647G>T
ENST00000338641.8:c.*587G>T ENSP00000344666.4:n.*587G>T
ENST00000361452.8:c.*647G>T ENSP00000354897.4:n.*647G>T
ENST00000413209.6:c.*587G>T ENSP00000409921.2:n.*587G>T
NM_000268.3:c.*587G>T , LRG_511t1:c.*587G>T NP_000259.1:n.*587G>T
NM_016418.5:c.*647G>T , LRG_511t2:c.*647G>T NP_057502.2:n.*647G>T
NM_181828.2:c.*647G>T NP_861966.1:n.*647G>T
NM_181829.2:c.*647G>T NP_861967.1:n.*647G>T
NM_181830.2:c.*647G>T NP_861968.1:n.*647G>T
NM_181832.2:c.*662G>T NP_861970.1:n.*662G>T
NM_181833.2:c.*587G>T NP_861971.1:n.*587G>T
NR_156186.1:n.2934G>T
XM_017028810.1:c.*647G>T XP_016884299.1:n.*647G>T
NM_000268.4:c.*587G>T MANE Select NP_000259.1:n.*587G>T
NM_181828.3:c.*647G>T NP_861966.1:n.*647G>T
NM_181829.3:c.*647G>T NP_861967.1:n.*647G>T
NM_181830.3:c.*647G>T NP_861968.1:n.*647G>T
NM_181832.3:c.*662G>T NP_861970.1:n.*662G>T
NR_156186.2:n.2857G>T
NM_181833.3:c.*587G>T NP_861971.1:n.*587G>T