Canonical Allele Identifier: CA2400693828
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs2067601041

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698018dup , CM000684.2:g.29698018dup GRCh38
NC_000022.10:g.30094007dup , CM000684.1:g.30094007dup GRCh37
NC_000022.9:g.28424007dup NCBI36
NG_009057.1:g.99463dup , LRG_511:g.99463dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*3216dup MANE Select ENSP00000344666.5:n.*3216dup
ENST00000672896.1:c.*3276dup ENSP00000500117.1:n.*3276dup
ENST00000338641.8:c.*3216dup ENSP00000344666.4:n.*3216dup
ENST00000361452.8:c.*3276dup ENSP00000354897.4:n.*3276dup
ENST00000413209.6:c.*3216dup ENSP00000409921.2:n.*3216dup
NM_000268.3:c.*3216dup , LRG_511t1:c.*3216dup NP_000259.1:n.*3216dup
NM_016418.5:c.*3276dup , LRG_511t2:c.*3276dup NP_057502.2:n.*3276dup
NM_181828.2:c.*3276dup NP_861966.1:n.*3276dup
NM_181829.2:c.*3276dup NP_861967.1:n.*3276dup
NM_181830.2:c.*3276dup NP_861968.1:n.*3276dup
NM_181832.2:c.*3291dup NP_861970.1:n.*3291dup
NM_181833.2:c.*3216dup NP_861971.1:n.*3216dup
NR_156186.1:n.5563dup
XM_017028810.1:c.*3276dup XP_016884299.1:n.*3276dup
NM_000268.4:c.*3216dup MANE Select NP_000259.1:n.*3216dup
NM_181828.3:c.*3276dup NP_861966.1:n.*3276dup
NM_181829.3:c.*3276dup NP_861967.1:n.*3276dup
NM_181830.3:c.*3276dup NP_861968.1:n.*3276dup
NM_181832.3:c.*3291dup NP_861970.1:n.*3291dup
NR_156186.2:n.5486dup
NM_181833.3:c.*3216dup NP_861971.1:n.*3216dup