Canonical Allele Identifier: CA2400692609
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695449A= , CM000684.2:g.29695449A= GRCh38
NC_000022.10:g.30091438A= , CM000684.1:g.30091438A= GRCh37
NC_000022.9:g.28421438A= NCBI36
NG_009057.1:g.96894A= , LRG_511:g.96894A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*647A= MANE Select ENSP00000344666.5:n.*647A=
ENST00000672461.1:c.*501+206A= ENSP00000500919.1:n.*501+206A=
ENST00000672896.1:c.*707A= ENSP00000500117.1:n.*707A=
ENST00000338641.8:c.*647A= ENSP00000344666.4:n.*647A=
ENST00000361452.8:c.*707A= ENSP00000354897.4:n.*707A=
ENST00000413209.6:c.*647A= ENSP00000409921.2:n.*647A=
NM_000268.3:c.*647A= , LRG_511t1:c.*647A= NP_000259.1:n.*647A=
NM_016418.5:c.*707A= , LRG_511t2:c.*707A= NP_057502.2:n.*707A=
NM_181828.2:c.*707A= NP_861966.1:n.*707A=
NM_181829.2:c.*707A= NP_861967.1:n.*707A=
NM_181830.2:c.*707A= NP_861968.1:n.*707A=
NM_181832.2:c.*722A= NP_861970.1:n.*722A=
NM_181833.2:c.*647A= NP_861971.1:n.*647A=
NR_156186.1:n.2994A=
XM_017028810.1:c.*707A= XP_016884299.1:n.*707A=
NM_000268.4:c.*647A= MANE Select NP_000259.1:n.*647A=
NM_181828.3:c.*707A= NP_861966.1:n.*707A=
NM_181829.3:c.*707A= NP_861967.1:n.*707A=
NM_181830.3:c.*707A= NP_861968.1:n.*707A=
NM_181832.3:c.*722A= NP_861970.1:n.*722A=
NR_156186.2:n.2917A=
NM_181833.3:c.*647A= NP_861971.1:n.*647A=