Canonical Allele Identifier: CA2322612618
Community Standard Title: NM_001005361.3(DNM2):c.1393C= (p.Arg465=)
Gene: DNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10798543C= , CM000681.2:g.10798543C= GRCh38
NC_000019.9:g.10909219C= , CM000681.1:g.10909219C= GRCh37
NC_000019.8:g.10770219C= NCBI36
NG_008792.1:g.85465C=

Transcript Alleles

HGVS Amino-acid Change
NM_001005361.3:c.1393C= MANE Select NP_001005361.1:p.Arg465=
ENST00000389253.9:c.1393C= MANE Select ENSP00000373905.4:p.Arg465=
NM_001005360.2:c.1393C= NP_001005360.1:p.Arg465=
NM_001005360.3:c.1393C= NP_001005360.1:p.Arg465=
NM_001005361.2:c.1393C= NP_001005361.1:p.Arg465=
NM_001005362.2:c.1393C= NP_001005362.1:p.Arg465=
NM_001005362.3:c.1393C= NP_001005362.1:p.Arg465=
NM_001190716.1:c.1393C= NP_001177645.1:p.Arg465=
NM_001190716.2:c.1393C= NP_001177645.1:p.Arg465=
NM_004945.3:c.1393C= NP_004936.2:p.Arg465=
NM_004945.4:c.1393C= NP_004936.2:p.Arg465=
ENST00000355667.10:c.1393C= ENSP00000347890.6:p.Arg465=
ENST00000355667.11:c.1393C= ENSP00000347890.6:p.Arg465=
ENST00000359692.10:c.1393C= ENSP00000352721.6:p.Arg465=
ENST00000389253.8:c.1393C= ENSP00000373905.3:p.Arg465=
ENST00000408974.8:c.1393C= ENSP00000386192.3:p.Arg465=
ENST00000585892.5:c.1393C= ENSP00000468734.1:p.Arg465=
ENST00000587329.1:n.157C=
ENST00000587830.2:c.649C= ENSP00000466603.2:p.Arg217=
ENST00000593220.1:n.542C=
ENST00000682285.1:n.1581C=
ENST00000683738.1:n.1720C=