Canonical Allele Identifier: CA645619676
Gene: DNM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10793803del , CM000681.2:g.10793803del GRCh38
NC_000019.9:g.10904479del , CM000681.1:g.10904479del GRCh37
NC_000019.8:g.10765479del NCBI36
NG_008792.1:g.80725del

Transcript Alleles

HGVS Amino-acid change
ENST00000682285.1:n.1264del
ENST00000682524.1:n.1264del
ENST00000683738.1:n.1264del
ENST00000355667.11:c.1076del ENSP00000347890.6:p.Gly359AlafsTer17
ENST00000389253.9:c.1076del MANE Select ENSP00000373905.4:p.Gly359AlafsTer17
ENST00000355667.10:c.1076del ENSP00000347890.6:p.Gly359AlafsTer17
ENST00000359692.10:c.1076del ENSP00000352721.6:p.Gly359AlafsTer17
ENST00000389253.8:c.1076del ENSP00000373905.3:p.Gly359AlafsTer17
ENST00000408974.8:c.1076del ENSP00000386192.3:p.Gly359AlafsTer17
ENST00000585892.5:c.1076del ENSP00000468734.1:p.Gly359AlafsTer17
ENST00000587830.2:c.332del ENSP00000466603.2:p.Gly111AlafsTer17
ENST00000591701.5:n.436del
NM_001005360.2:c.1076del NP_001005360.1:p.Gly359AlafsTer17
NM_001005361.2:c.1076del NP_001005361.1:p.Gly359AlafsTer17
NM_001005362.2:c.1076del NP_001005362.1:p.Gly359AlafsTer17
NM_001190716.1:c.1076del NP_001177645.1:p.Gly359AlafsTer17
NM_004945.3:c.1076del NP_004936.2:p.Gly359AlafsTer17
NM_001005361.3:c.1076del MANE Select NP_001005361.1:p.Gly359AlafsTer17
NM_001190716.2:c.1076del NP_001177645.1:p.Gly359AlafsTer17
NM_001005360.3:c.1076del NP_001005360.1:p.Gly359AlafsTer17
NM_001005362.3:c.1076del NP_001005362.1:p.Gly359AlafsTer17
NM_004945.4:c.1076del NP_004936.2:p.Gly359AlafsTer17