Canonical Allele Identifier: CA2400692549
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695316C= , CM000684.2:g.29695316C= GRCh38
NC_000022.10:g.30091305C= , CM000684.1:g.30091305C= GRCh37
NC_000022.9:g.28421305C= NCBI36
NG_009057.1:g.96761C= , LRG_511:g.96761C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*514C= MANE Select ENSP00000344666.5:n.*514C=
ENST00000672461.1:c.*501+73C= ENSP00000500919.1:n.*501+73C=
ENST00000672896.1:c.*574C= ENSP00000500117.1:n.*574C=
ENST00000338641.8:c.*514C= ENSP00000344666.4:n.*514C=
ENST00000361452.8:c.*574C= ENSP00000354897.4:n.*574C=
ENST00000413209.6:c.*514C= ENSP00000409921.2:n.*514C=
NM_000268.3:c.*514C= , LRG_511t1:c.*514C= NP_000259.1:n.*514C=
NM_016418.5:c.*574C= , LRG_511t2:c.*574C= NP_057502.2:n.*574C=
NM_181828.2:c.*574C= NP_861966.1:n.*574C=
NM_181829.2:c.*574C= NP_861967.1:n.*574C=
NM_181830.2:c.*574C= NP_861968.1:n.*574C=
NM_181832.2:c.*589C= NP_861970.1:n.*589C=
NM_181833.2:c.*514C= NP_861971.1:n.*514C=
NR_156186.1:n.2861C=
XM_017028810.1:c.*574C= XP_016884299.1:n.*574C=
NM_000268.4:c.*514C= MANE Select NP_000259.1:n.*514C=
NM_181828.3:c.*574C= NP_861966.1:n.*574C=
NM_181829.3:c.*574C= NP_861967.1:n.*574C=
NM_181830.3:c.*574C= NP_861968.1:n.*574C=
NM_181832.3:c.*589C= NP_861970.1:n.*589C=
NR_156186.2:n.2784C=
NM_181833.3:c.*514C= NP_861971.1:n.*514C=