Canonical Allele Identifier: CA305283326
Community Standard Title: NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
Gene: DNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10798522C>A , CM000681.2:g.10798522C>A GRCh38
NC_000019.9:g.10909198C>A , CM000681.1:g.10909198C>A GRCh37
NC_000019.8:g.10770198C>A NCBI36
NG_008792.1:g.85444C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001005361.3:c.1372C>A MANE Select NP_001005361.1:p.Arg458=
ENST00000389253.9:c.1372C>A MANE Select ENSP00000373905.4:p.Arg458=
NM_001005360.2:c.1372C>A NP_001005360.1:p.Arg458=
NM_001005360.3:c.1372C>A NP_001005360.1:p.Arg458=
NM_001005361.2:c.1372C>A NP_001005361.1:p.Arg458=
NM_001005362.2:c.1372C>A NP_001005362.1:p.Arg458=
NM_001005362.3:c.1372C>A NP_001005362.1:p.Arg458=
NM_001190716.1:c.1372C>A NP_001177645.1:p.Arg458=
NM_001190716.2:c.1372C>A NP_001177645.1:p.Arg458=
NM_004945.3:c.1372C>A NP_004936.2:p.Arg458=
NM_004945.4:c.1372C>A NP_004936.2:p.Arg458=
ENST00000355667.10:c.1372C>A ENSP00000347890.6:p.Arg458=
ENST00000355667.11:c.1372C>A ENSP00000347890.6:p.Arg458=
ENST00000359692.10:c.1372C>A ENSP00000352721.6:p.Arg458=
ENST00000389253.8:c.1372C>A ENSP00000373905.3:p.Arg458=
ENST00000408974.8:c.1372C>A ENSP00000386192.3:p.Arg458=
ENST00000585892.5:c.1372C>A ENSP00000468734.1:p.Arg458=
ENST00000587329.1:n.136C>A
ENST00000587830.2:c.628C>A ENSP00000466603.2:p.Arg210=
ENST00000593220.1:n.521C>A
ENST00000682285.1:n.1560C>A
ENST00000683738.1:n.1699C>A