Canonical Allele Identifier: CA2400693244
Gene: NF2 HGNC NCBI

Linked Data

dbSNP Id: rs11442202

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29696828_29696834dup , CM000684.2:g.29696828_29696834dup GRCh38
NC_000022.10:g.30092817_30092823dup , CM000684.1:g.30092817_30092823dup GRCh37
NC_000022.9:g.28422817_28422823dup NCBI36
NG_009057.1:g.98273_98279dup , LRG_511:g.98273_98279dup

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*2026_*2032dup MANE Select ENSP00000344666.5:n.*2026_*2032dup
ENST00000672461.1:c.*502-433_*502-427dup ENSP00000500919.1:n.*502-433_*502-427dup
ENST00000672896.1:c.*2086_*2092dup ENSP00000500117.1:n.*2086_*2092dup
ENST00000338641.8:c.*2026_*2032dup ENSP00000344666.4:n.*2026_*2032dup
ENST00000361452.8:c.*2086_*2092dup ENSP00000354897.4:n.*2086_*2092dup
ENST00000413209.6:c.*2026_*2032dup ENSP00000409921.2:n.*2026_*2032dup
NM_000268.3:c.*2026_*2032dup , LRG_511t1:c.*2026_*2032dup NP_000259.1:n.*2026_*2032dup
NM_016418.5:c.*2086_*2092dup , LRG_511t2:c.*2086_*2092dup NP_057502.2:n.*2086_*2092dup
NM_181828.2:c.*2086_*2092dup NP_861966.1:n.*2086_*2092dup
NM_181829.2:c.*2086_*2092dup NP_861967.1:n.*2086_*2092dup
NM_181830.2:c.*2086_*2092dup NP_861968.1:n.*2086_*2092dup
NM_181832.2:c.*2101_*2107dup NP_861970.1:n.*2101_*2107dup
NM_181833.2:c.*2026_*2032dup NP_861971.1:n.*2026_*2032dup
NR_156186.1:n.4373_4379dup
XM_017028810.1:c.*2086_*2092dup XP_016884299.1:n.*2086_*2092dup
NM_000268.4:c.*2026_*2032dup MANE Select NP_000259.1:n.*2026_*2032dup
NM_181828.3:c.*2086_*2092dup NP_861966.1:n.*2086_*2092dup
NM_181829.3:c.*2086_*2092dup NP_861967.1:n.*2086_*2092dup
NM_181830.3:c.*2086_*2092dup NP_861968.1:n.*2086_*2092dup
NM_181832.3:c.*2101_*2107dup NP_861970.1:n.*2101_*2107dup
NR_156186.2:n.4296_4302dup
NM_181833.3:c.*2026_*2032dup NP_861971.1:n.*2026_*2032dup