Canonical Allele Identifier: CA2656033929
Gene: NF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29695462G>A , CM000684.2:g.29695462G>A GRCh38
NC_000022.10:g.30091451G>A , CM000684.1:g.30091451G>A GRCh37
NC_000022.9:g.28421451G>A NCBI36
NG_009057.1:g.96907G>A , LRG_511:g.96907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338641.10:c.*660G>A MANE Select ENSP00000344666.5:n.*660G>A
ENST00000672461.1:c.*501+219G>A ENSP00000500919.1:n.*501+219G>A
ENST00000672896.1:c.*720G>A ENSP00000500117.1:n.*720G>A
ENST00000338641.8:c.*660G>A ENSP00000344666.4:n.*660G>A
ENST00000361452.8:c.*720G>A ENSP00000354897.4:n.*720G>A
ENST00000413209.6:c.*660G>A ENSP00000409921.2:n.*660G>A
NM_000268.3:c.*660G>A , LRG_511t1:c.*660G>A NP_000259.1:n.*660G>A
NM_016418.5:c.*720G>A , LRG_511t2:c.*720G>A NP_057502.2:n.*720G>A
NM_181828.2:c.*720G>A NP_861966.1:n.*720G>A
NM_181829.2:c.*720G>A NP_861967.1:n.*720G>A
NM_181830.2:c.*720G>A NP_861968.1:n.*720G>A
NM_181832.2:c.*735G>A NP_861970.1:n.*735G>A
NM_181833.2:c.*660G>A NP_861971.1:n.*660G>A
NR_156186.1:n.3007G>A
XM_017028810.1:c.*720G>A XP_016884299.1:n.*720G>A
NM_000268.4:c.*660G>A MANE Select NP_000259.1:n.*660G>A
NM_181828.3:c.*720G>A NP_861966.1:n.*720G>A
NM_181829.3:c.*720G>A NP_861967.1:n.*720G>A
NM_181830.3:c.*720G>A NP_861968.1:n.*720G>A
NM_181832.3:c.*735G>A NP_861970.1:n.*735G>A
NR_156186.2:n.2930G>A
NM_181833.3:c.*660G>A NP_861971.1:n.*660G>A