Canonical Allele Identifier: CA514181621
Gene: NF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.30050651T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29654662T>A , CM000684.2:g.29654662T>A GRCh38
NC_000022.10:g.30050651T>A , CM000684.1:g.30050651T>A GRCh37
NC_000022.9:g.28380651T>A NCBI36
NG_009057.1:g.56107T>A , LRG_511:g.56107T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.453T>A ENSP00000354529.6:p.Gly151=
ENST00000673312.2:c.453T>A ENSP00000500186.2:p.Gly151=
ENST00000338641.10:c.453T>A MANE Select ENSP00000344666.5:p.Gly151=
ENST00000361166.9:c.6T>A ENSP00000354529.5:p.Gly2=
ENST00000672461.1:c.453T>A ENSP00000500919.1:p.Gly151=
ENST00000672805.1:c.*335T>A ENSP00000500295.1:n.*335T>A
ENST00000672896.1:c.453T>A ENSP00000500117.1:p.Gly151=
ENST00000673312.1:c.366T>A ENSP00000500186.1:p.Gly122=
ENST00000334961.11:c.204T>A ENSP00000335652.7:p.Gly68=
ENST00000338641.8:c.453T>A ENSP00000344666.4:p.Gly151=
ENST00000353887.8:c.204T>A ENSP00000340626.4:p.Gly68=
ENST00000361166.8:c.453T>A ENSP00000354529.4:p.Gly151=
ENST00000361452.8:c.330T>A ENSP00000354897.4:p.Gly110=
ENST00000361676.8:c.327T>A ENSP00000355183.4:p.Gly109=
ENST00000397789.3:c.453T>A ENSP00000380891.3:p.Gly151=
ENST00000403435.5:c.453T>A ENSP00000384029.1:p.Gly151=
ENST00000403999.7:c.453T>A ENSP00000384797.3:p.Gly151=
ENST00000413209.6:c.447+12377T>A ENSP00000409921.2:n.447+12377T>A
ENST00000432151.5:c.199-6543T>A ENSP00000395885.1:n.199-6543T>A
NM_000268.3:c.453T>A , LRG_511t1:c.453T>A NP_000259.1:p.Gly151=
NM_016418.5:c.453T>A , LRG_511t2:c.453T>A NP_057502.2:p.Gly151=
NM_181825.2:c.453T>A NP_861546.1:p.Gly151=
NM_181828.2:c.327T>A NP_861966.1:p.Gly109=
NM_181829.2:c.330T>A NP_861967.1:p.Gly110=
NM_181830.2:c.204T>A NP_861968.1:p.Gly68=
NM_181831.2:c.204T>A NP_861969.1:p.Gly68=
NM_181832.2:c.453T>A NP_861970.1:p.Gly151=
NM_181833.2:c.447+12377T>A NP_861971.1:n.447+12377T>A
NR_156186.1:n.1012T>A
XM_017028809.2:c.339T>A XP_016884298.1:p.Gly113=
XM_017028810.1:c.339T>A XP_016884299.1:p.Gly113=
NM_000268.4:c.453T>A MANE Select NP_000259.1:p.Gly151=
NM_181825.3:c.453T>A NP_861546.1:p.Gly151=
NM_181828.3:c.327T>A NP_861966.1:p.Gly109=
NM_181829.3:c.330T>A NP_861967.1:p.Gly110=
NM_181830.3:c.204T>A NP_861968.1:p.Gly68=
NM_181831.3:c.204T>A NP_861969.1:p.Gly68=
NM_181832.3:c.453T>A NP_861970.1:p.Gly151=
NR_156186.2:n.935T>A
NM_181833.3:c.447+12377T>A NP_861971.1:n.447+12377T>A