Canonical Allele Identifier: CA16620724
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422584
ClinVar RCV Id: RCV000486771
dbSNP Id: rs1064795874

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10718195_10718196delinsTTGAGGGTCGCCCG , CM000681.2:g.10718195_10718196delinsTTGAGGGTCGCCCG GRCh38
NC_000019.9:g.10828871_10828872delinsTTGAGGGTCGCCCG , CM000681.1:g.10828871_10828872delinsTTGAGGGTCGCCCG GRCh37
NC_000019.8:g.10689871_10689872delinsTTGAGGGTCGCCCG NCBI36
NG_008792.1:g.5117_5118delinsTTGAGGGTCGCCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682285.1:n.141_142delinsTTGAGGGTCGCCCG
ENST00000682524.1:n.141_142delinsTTGAGGGTCGCCCG
ENST00000683738.1:n.141_142delinsTTGAGGGTCGCCCG
ENST00000355667.11:c.-48_-47delinsTTGAGGGTCGCCCG ENSP00000347890.6:n.-48_-47delinsTTGAGGGTCGCCCG
ENST00000389253.9:c.-48_-47delinsTTGAGGGTCGCCCG MANE Select ENSP00000373905.4:n.-48_-47delinsTTGAGGGTCGCCCG
ENST00000355667.10:c.-48_-47delinsTTGAGGGTCGCCCG ENSP00000347890.6:n.-48_-47delinsTTGAGGGTCGCCCG
ENST00000359692.10:c.-48_-47delinsTTGAGGGTCGCCCG ENSP00000352721.6:n.-48_-47delinsTTGAGGGTCGCCCG
ENST00000389253.8:c.-48_-47delinsTTGAGGGTCGCCCG ENSP00000373905.3:n.-48_-47delinsTTGAGGGTCGCCCG
ENST00000585892.5:c.-48_-47delinsTTGAGGGTCGCCCG ENSP00000468734.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005360.2:c.-48_-47delinsTTGAGGGTCGCCCG NP_001005360.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005361.2:c.-48_-47delinsTTGAGGGTCGCCCG NP_001005361.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005362.2:c.-48_-47delinsTTGAGGGTCGCCCG NP_001005362.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001190716.1:c.-48_-47delinsTTGAGGGTCGCCCG NP_001177645.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_004945.3:c.-48_-47delinsTTGAGGGTCGCCCG NP_004936.2:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005361.3:c.-48_-47delinsTTGAGGGTCGCCCG MANE Select NP_001005361.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001190716.2:c.-48_-47delinsTTGAGGGTCGCCCG NP_001177645.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005360.3:c.-48_-47delinsTTGAGGGTCGCCCG NP_001005360.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_001005362.3:c.-48_-47delinsTTGAGGGTCGCCCG NP_001005362.1:n.-48_-47delinsTTGAGGGTCGCCCG
NM_004945.4:c.-48_-47delinsTTGAGGGTCGCCCG NP_004936.2:n.-48_-47delinsTTGAGGGTCGCCCG