Canonical Allele Identifier: CA9200746
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256867
dbSNP Id: rs143084059

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10772471C>G , CM000681.2:g.10772471C>G GRCh38
NC_000019.9:g.10883147C>G , CM000681.1:g.10883147C>G GRCh37
NC_000019.8:g.10744147C>G NCBI36
NG_008792.1:g.59393C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355667.11:c.236-8C>G ENSP00000347890.6:p.=
ENST00000389253.9:c.236-8C>G MANE Select ENSP00000373905.4:p.=
ENST00000355667.10:c.236-8C>G ENSP00000347890.6:p.=
ENST00000359692.10:c.236-8C>G ENSP00000352721.6:p.=
ENST00000389253.8:c.236-8C>G ENSP00000373905.3:p.=
ENST00000408974.8:c.236-8C>G ENSP00000386192.3:p.=
ENST00000585892.5:c.236-8C>G ENSP00000468734.1:p.=
ENST00000586939.5:c.-239-8C>G ENSP00000467430.1:p.=
ENST00000587991.5:n.311-8C>G
ENST00000591266.1:n.519-8C>G
ENST00000591819.1:n.159-8C>G
NM_001005360.2:c.236-8C>G NP_001005360.1:p.=
NM_001005361.2:c.236-8C>G NP_001005361.1:p.=
NM_001005362.2:c.236-8C>G NP_001005362.1:p.=
NM_001190716.1:c.236-8C>G NP_001177645.1:p.=
NM_004945.3:c.236-8C>G NP_004936.2:p.=
NM_001005361.3:c.236-8C>G MANE Select NP_001005361.1:p.=
NM_001190716.2:c.236-8C>G NP_001177645.1:p.=
NM_001005360.3:c.236-8C>G NP_001005360.1:p.=
NM_001005362.3:c.236-8C>G NP_001005362.1:p.=
NM_004945.4:c.236-8C>G NP_004936.2:p.=