Canonical Allele Identifier: CA9201134

Gene: DNM2

Linked Data

• ClinVar Variation Id: 327980
• ClinVar RCV Id: RCV000331170 ; RCV000459689 ; RCV000489408 ; RCV000766564 ; RCV002379210
• dbSNP Id: rs201575500
• ExAC: 19:10909210 A / G
• gnomAD v2: 19-10909210-A-G
• gnomAD v3: 19-10798534-A-G
• gnomAD v4: 19-10798534-A-G
• MyVariant Identifiers: chr19:g.10909210A>G (hg19) ; chr19:g.10798534A>G (hg38)
• PubMed: PMID:25214167

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10798534A>G , CM000681.2:g.10798534A>G	GRCh38
NC_000019.9:g.10909210A>G , CM000681.1:g.10909210A>G	GRCh37
NC_000019.8:g.10770210A>G	NCBI36
NG_008792.1:g.85456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1572A>G
ENST00000683738.1:n.1711A>G
ENST00000355667.11:c.1384A>G	ENSP00000347890.6:p.Thr462Ala
ENST00000389253.9:c.1384A>G MANE Select	ENSP00000373905.4:p.Thr462Ala
ENST00000355667.10:c.1384A>G	ENSP00000347890.6:p.Thr462Ala
ENST00000359692.10:c.1384A>G	ENSP00000352721.6:p.Thr462Ala
ENST00000389253.8:c.1384A>G	ENSP00000373905.3:p.Thr462Ala
ENST00000408974.8:c.1384A>G	ENSP00000386192.3:p.Thr462Ala
ENST00000585892.5:c.1384A>G	ENSP00000468734.1:p.Thr462Ala
ENST00000587329.1:n.148A>G
ENST00000587830.2:c.640A>G	ENSP00000466603.2:p.Thr214Ala
ENST00000593220.1:n.533A>G
NM_001005360.2:c.1384A>G	NP_001005360.1:p.Thr462Ala
NM_001005361.2:c.1384A>G	NP_001005361.1:p.Thr462Ala
NM_001005362.2:c.1384A>G	NP_001005362.1:p.Thr462Ala
NM_001190716.1:c.1384A>G	NP_001177645.1:p.Thr462Ala
NM_004945.3:c.1384A>G	NP_004936.2:p.Thr462Ala
NM_001005361.3:c.1384A>G MANE Select	NP_001005361.1:p.Thr462Ala
NM_001190716.2:c.1384A>G	NP_001177645.1:p.Thr462Ala
NM_001005360.3:c.1384A>G	NP_001005360.1:p.Thr462Ala
NM_001005362.3:c.1384A>G	NP_001005362.1:p.Thr462Ala
NM_004945.4:c.1384A>G	NP_004936.2:p.Thr462Ala