Canonical Allele Identifier: CA9200718
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 511239
ClinVar RCV Id: RCV000604663 RCV000641116
dbSNP Id: rs766449694
ExAC: 19:10870407 CT / C
gnomAD v2: 19-10870407-CT-C
gnomAD v3: 19-10759731-CT-C
gnomAD v4: 19-10759731-CT-C
MyVariant Identifiers: chr19:g.10870408del (hg19) chr19:g.10759732del (hg38)
ERepo: CA9200718/MONDO:0018947/148
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10759732del , CM000681.2:g.10759732del GRCh38
NC_000019.9:g.10870408del , CM000681.1:g.10870408del GRCh37
NC_000019.8:g.10731408del NCBI36
NG_008792.1:g.46654del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682285.1:n.350-6del
ENST00000682524.1:n.350-6del
ENST00000683738.1:n.350-6del
ENST00000355667.11:c.162-6del ENSP00000347890.6:n.162-6del
ENST00000389253.9:c.162-6del MANE Select ENSP00000373905.4:n.162-6del
ENST00000355667.10:c.162-6del ENSP00000347890.6:n.162-6del
ENST00000359692.10:c.162-6del ENSP00000352721.6:n.162-6del
ENST00000389253.8:c.162-6del ENSP00000373905.3:n.162-6del
ENST00000408974.8:c.162-6del ENSP00000386192.3:n.162-6del
ENST00000585892.5:c.162-6del ENSP00000468734.1:n.162-6del
ENST00000586939.5:c.-313-6del ENSP00000467430.1:n.-313-6del
ENST00000588976.1:n.467del
NM_001005360.2:c.162-6del NP_001005360.1:n.162-6del
NM_001005361.2:c.162-6del NP_001005361.1:n.162-6del
NM_001005362.2:c.162-6del NP_001005362.1:n.162-6del
NM_001190716.1:c.162-6del NP_001177645.1:n.162-6del
NM_004945.3:c.162-6del NP_004936.2:n.162-6del
NM_001005361.3:c.162-6del MANE Select NP_001005361.1:n.162-6del
NM_001190716.2:c.162-6del NP_001177645.1:n.162-6del
NM_001005360.3:c.162-6del NP_001005360.1:n.162-6del
NM_001005362.3:c.162-6del NP_001005362.1:n.162-6del
NM_004945.4:c.162-6del NP_004936.2:n.162-6del
Search 100 bp 5'
Search 100 bp 3'