Canonical Allele Identifier: CA10584608

Gene: DNM2

Linked Data

• ClinVar Variation Id: 246082
• ClinVar RCV Id: RCV000236107 ; RCV002518442
• dbSNP Id: rs879254086
• MyVariant Identifiers: chr19:g.10930662G>A (hg19) ; chr19:g.10819986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10819986G>A , CM000681.2:g.10819986G>A	GRCh38
NC_000019.9:g.10930662G>A , CM000681.1:g.10930662G>A	GRCh37
NC_000019.8:g.10791662G>A	NCBI36
NG_008792.1:g.106908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1109G>A
ENST00000355667.11:c.1678G>A	ENSP00000347890.6:p.Glu560Lys
ENST00000389253.9:c.1678G>A MANE Select	ENSP00000373905.4:p.Glu560Lys
ENST00000355667.10:c.1678G>A	ENSP00000347890.6:p.Glu560Lys
ENST00000359692.10:c.1666G>A	ENSP00000352721.6:p.Glu556Lys
ENST00000389253.8:c.1678G>A	ENSP00000373905.3:p.Glu560Lys
ENST00000408974.8:c.1666G>A	ENSP00000386192.3:p.Glu556Lys
ENST00000585892.5:c.1678G>A	ENSP00000468734.1:p.Glu560Lys
ENST00000590787.1:n.3177G>A
ENST00000590806.5:n.3866G>A
NM_001005360.2:c.1678G>A	NP_001005360.1:p.Glu560Lys
NM_001005361.2:c.1678G>A	NP_001005361.1:p.Glu560Lys
NM_001005362.2:c.1666G>A	NP_001005362.1:p.Glu556Lys
NM_001190716.1:c.1678G>A	NP_001177645.1:p.Glu560Lys
NM_004945.3:c.1666G>A	NP_004936.2:p.Glu556Lys
NM_001005361.3:c.1678G>A MANE Select	NP_001005361.1:p.Glu560Lys
NM_001190716.2:c.1678G>A	NP_001177645.1:p.Glu560Lys
NM_001005360.3:c.1678G>A	NP_001005360.1:p.Glu560Lys
NM_001005362.3:c.1666G>A	NP_001005362.1:p.Glu556Lys
NM_004945.4:c.1666G>A	NP_004936.2:p.Glu556Lys