Canonical Allele Identifier: CA9200679
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 391529
dbSNP Id: rs552741402

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10718344C>A , CM000681.2:g.10718344C>A GRCh38
NC_000019.9:g.10829020C>A , CM000681.1:g.10829020C>A GRCh37
NC_000019.8:g.10690020C>A NCBI36
NG_008792.1:g.5266C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682285.1:n.290C>A
ENST00000682524.1:n.290C>A
ENST00000683738.1:n.290C>A
ENST00000355667.11:c.102C>A ENSP00000347890.6:p.Ile34=
ENST00000389253.9:c.102C>A MANE Select ENSP00000373905.4:p.Ile34=
ENST00000355667.10:c.102C>A ENSP00000347890.6:p.Ile34=
ENST00000359692.10:c.102C>A ENSP00000352721.6:p.Ile34=
ENST00000389253.8:c.102C>A ENSP00000373905.3:p.Ile34=
ENST00000408974.8:c.102C>A ENSP00000386192.3:p.Ile34=
ENST00000585892.5:c.102C>A ENSP00000468734.1:p.Ile34=
NM_001005360.2:c.102C>A NP_001005360.1:p.Ile34=
NM_001005361.2:c.102C>A NP_001005361.1:p.Ile34=
NM_001005362.2:c.102C>A NP_001005362.1:p.Ile34=
NM_001190716.1:c.102C>A NP_001177645.1:p.Ile34=
NM_004945.3:c.102C>A NP_004936.2:p.Ile34=
NM_001005361.3:c.102C>A MANE Select NP_001005361.1:p.Ile34=
NM_001190716.2:c.102C>A NP_001177645.1:p.Ile34=
NM_001005360.3:c.102C>A NP_001005360.1:p.Ile34=
NM_001005362.3:c.102C>A NP_001005362.1:p.Ile34=
NM_004945.4:c.102C>A NP_004936.2:p.Ile34=