Canonical Allele Identifier: CA172098

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7281
• ClinVar RCV Id: RCV000007704 ; RCV000145902 ; RCV000373773 ; RCV000641110 ; RCV001813964
• dbSNP Id: rs121909091
• gnomAD v4: 19-10798543-C-T
• COSMIC: COSM3528362 ; COSM3528363 ; COSM3528364
• MyVariant Identifiers: chr19:g.10909219C>T (hg19) ; chr19:g.10798543C>T (hg38)
• PubMed: PMID:16227997 ; PMID:20529869 ; PMID:20858595 ; PMID:24088041 ; PMID:26633545

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1581C>T
ENST00000683738.1:n.1720C>T
ENST00000355667.11:c.1393C>T	ENSP00000347890.6:p.Arg465Trp
ENST00000389253.9:c.1393C>T MANE Select	ENSP00000373905.4:p.Arg465Trp
ENST00000355667.10:c.1393C>T	ENSP00000347890.6:p.Arg465Trp
ENST00000359692.10:c.1393C>T	ENSP00000352721.6:p.Arg465Trp
ENST00000389253.8:c.1393C>T	ENSP00000373905.3:p.Arg465Trp
ENST00000408974.8:c.1393C>T	ENSP00000386192.3:p.Arg465Trp
ENST00000585892.5:c.1393C>T	ENSP00000468734.1:p.Arg465Trp
ENST00000587329.1:n.157C>T
ENST00000587830.2:c.649C>T	ENSP00000466603.2:p.Arg217Trp
ENST00000593220.1:n.542C>T
NM_001005360.2:c.1393C>T	NP_001005360.1:p.Arg465Trp
NM_001005361.2:c.1393C>T	NP_001005361.1:p.Arg465Trp
NM_001005362.2:c.1393C>T	NP_001005362.1:p.Arg465Trp
NM_001190716.1:c.1393C>T	NP_001177645.1:p.Arg465Trp
NM_004945.3:c.1393C>T	NP_004936.2:p.Arg465Trp
NM_001005361.3:c.1393C>T MANE Select	NP_001005361.1:p.Arg465Trp
NM_001190716.2:c.1393C>T	NP_001177645.1:p.Arg465Trp
NM_001005360.3:c.1393C>T	NP_001005360.1:p.Arg465Trp
NM_001005362.3:c.1393C>T	NP_001005362.1:p.Arg465Trp
NM_004945.4:c.1393C>T	NP_004936.2:p.Arg465Trp