Canonical Allele Identifier: CA172133

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158527
• ClinVar RCV Id: RCV000145919 ; RCV000346472 ; RCV000711488 ; RCV001083907 ; RCV002492532 ; RCV003927425
• dbSNP Id: rs201979143
• ExAC: 19:10941061 C / G
• gnomAD v2: 19-10941061-C-G
• gnomAD v3: 19-10830385-C-G
• gnomAD v4: 19-10830385-C-G
• MyVariant Identifiers: chr19:g.10941061C>G (hg19) ; chr19:g.10830385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10830385C>G , CM000681.2:g.10830385C>G	GRCh38
NC_000019.9:g.10941061C>G , CM000681.1:g.10941061C>G	GRCh37
NC_000019.8:g.10802061C>G	NCBI36
NG_008792.1:g.117307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1974+7C>G
ENST00000355667.11:c.2543+7C>G	ENSP00000347890.6:n.2543+7C>G
ENST00000389253.9:c.2543+7C>G MANE Select	ENSP00000373905.4:n.2543+7C>G
ENST00000355667.10:c.2543+7C>G	ENSP00000347890.6:n.2543+7C>G
ENST00000359692.10:c.2531+7C>G	ENSP00000352721.6:n.2531+7C>G
ENST00000389253.8:c.2543+7C>G	ENSP00000373905.3:n.2543+7C>G
ENST00000408974.8:c.2531+7C>G	ENSP00000386192.3:n.2531+7C>G
ENST00000585892.5:c.2543+7C>G	ENSP00000468734.1:n.2543+7C>G
ENST00000589106.1:c.416C>G
ENST00000590806.5:n.4731+7C>G
ENST00000591818.1:c.41+7C>G	ENSP00000466621.1:n.41+7C>G
ENST00000593203.1:n.1326+7C>G
NM_001005360.2:c.2543+7C>G	NP_001005360.1:n.2543+7C>G
NM_001005361.2:c.2543+7C>G	NP_001005361.1:n.2543+7C>G
NM_001005362.2:c.2531+7C>G	NP_001005362.1:n.2531+7C>G
NM_001190716.1:c.2543+7C>G	NP_001177645.1:n.2543+7C>G
NM_004945.3:c.2531+7C>G	NP_004936.2:n.2531+7C>G
NM_001005361.3:c.2543+7C>G MANE Select	NP_001005361.1:n.2543+7C>G
NM_001190716.2:c.2543+7C>G	NP_001177645.1:n.2543+7C>G
NM_001005360.3:c.2543+7C>G	NP_001005360.1:n.2543+7C>G
NM_001005362.3:c.2531+7C>G	NP_001005362.1:n.2531+7C>G
NM_004945.4:c.2531+7C>G	NP_004936.2:n.2531+7C>G