Canonical Allele Identifier: CA2400693362
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29697048C= , CM000684.2:g.29697048C= GRCh38
NC_000022.10:g.30093037C= , CM000684.1:g.30093037C= GRCh37
NC_000022.9:g.28423037C= NCBI36
NG_009057.1:g.98493C= , LRG_511:g.98493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*2246C= MANE Select ENSP00000344666.5:n.*2246C=
ENST00000672461.1:c.*502-213C= ENSP00000500919.1:n.*502-213C=
ENST00000672896.1:c.*2306C= ENSP00000500117.1:n.*2306C=
ENST00000338641.8:c.*2246C= ENSP00000344666.4:n.*2246C=
ENST00000361452.8:c.*2306C= ENSP00000354897.4:n.*2306C=
ENST00000413209.6:c.*2246C= ENSP00000409921.2:n.*2246C=
NM_000268.3:c.*2246C= , LRG_511t1:c.*2246C= NP_000259.1:n.*2246C=
NM_016418.5:c.*2306C= , LRG_511t2:c.*2306C= NP_057502.2:n.*2306C=
NM_181828.2:c.*2306C= NP_861966.1:n.*2306C=
NM_181829.2:c.*2306C= NP_861967.1:n.*2306C=
NM_181830.2:c.*2306C= NP_861968.1:n.*2306C=
NM_181832.2:c.*2321C= NP_861970.1:n.*2321C=
NM_181833.2:c.*2246C= NP_861971.1:n.*2246C=
NR_156186.1:n.4593C=
XM_017028810.1:c.*2306C= XP_016884299.1:n.*2306C=
NM_000268.4:c.*2246C= MANE Select NP_000259.1:n.*2246C=
NM_181828.3:c.*2306C= NP_861966.1:n.*2306C=
NM_181829.3:c.*2306C= NP_861967.1:n.*2306C=
NM_181830.3:c.*2306C= NP_861968.1:n.*2306C=
NM_181832.3:c.*2321C= NP_861970.1:n.*2321C=
NR_156186.2:n.4516C=
NM_181833.3:c.*2246C= NP_861971.1:n.*2246C=