Canonical Allele Identifier: CA631752399

Gene: DNM2

Linked Data

• ClinVar Variation Id: 515852
• ClinVar RCV Id: RCV000614276 ; RCV003144393 ; RCV002528693
• dbSNP Id: rs1426762153
• gnomAD v2: 19-10919227-A-C
• gnomAD v4: 19-10808551-A-C
• MyVariant Identifiers: chr19:g.10919227A>C (hg19) ; chr19:g.10808551A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10808551A>C , CM000681.2:g.10808551A>C	GRCh38
NC_000019.9:g.10919227A>C , CM000681.1:g.10919227A>C	GRCh37
NC_000019.8:g.10780227A>C	NCBI36
NG_008792.1:g.95473A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.988+2584A>C
ENST00000355667.11:c.1546-18A>C	ENSP00000347890.6:n.1546-18A>C
ENST00000389253.9:c.1546-18A>C MANE Select	ENSP00000373905.4:n.1546-18A>C
ENST00000355667.10:c.1546-18A>C	ENSP00000347890.6:n.1546-18A>C
ENST00000359692.10:c.1545+2584A>C	ENSP00000352721.6:n.1545+2584A>C
ENST00000389253.8:c.1546-18A>C	ENSP00000373905.3:n.1546-18A>C
ENST00000408974.8:c.1545+2584A>C	ENSP00000386192.3:n.1545+2584A>C
ENST00000585892.5:c.1546-18A>C	ENSP00000468734.1:n.1546-18A>C
ENST00000587830.2:c.831+2584A>C	ENSP00000466603.2:n.831+2584A>C
ENST00000590806.5:n.33A>C
NM_001005360.2:c.1546-18A>C	NP_001005360.1:n.1546-18A>C
NM_001005361.2:c.1546-18A>C	NP_001005361.1:n.1546-18A>C
NM_001005362.2:c.1545+2584A>C	NP_001005362.1:n.1545+2584A>C
NM_001190716.1:c.1546-18A>C	NP_001177645.1:n.1546-18A>C
NM_004945.3:c.1545+2584A>C	NP_004936.2:n.1545+2584A>C
NM_001005361.3:c.1546-18A>C MANE Select	NP_001005361.1:n.1546-18A>C
NM_001190716.2:c.1546-18A>C	NP_001177645.1:n.1546-18A>C
NM_001005360.3:c.1546-18A>C	NP_001005360.1:n.1546-18A>C
NM_001005362.3:c.1545+2584A>C	NP_001005362.1:n.1545+2584A>C
NM_004945.4:c.1545+2584A>C	NP_004936.2:n.1545+2584A>C