Canonical Allele Identifier: CA404046178

Gene: DNM2

Linked Data

• ClinVar Variation Id: 647676
• ClinVar RCV Id: RCV000802235
• dbSNP Id: rs587778235
• gnomAD v4: 19-10786582-C-G
• MyVariant Identifiers: chr19:g.10897258C>G (hg19) ; chr19:g.10786582C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10786582C>G , CM000681.2:g.10786582C>G	GRCh38
NC_000019.9:g.10897258C>G , CM000681.1:g.10897258C>G	GRCh37
NC_000019.8:g.10758258C>G	NCBI36
NG_008792.1:g.73504C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.1056C>G
ENST00000682524.1:n.1056C>G
ENST00000683738.1:n.1056C>G
ENST00000355667.11:c.868C>G	ENSP00000347890.6:p.Arg290Gly
ENST00000389253.9:c.868C>G MANE Select	ENSP00000373905.4:p.Arg290Gly
ENST00000355667.10:c.868C>G	ENSP00000347890.6:p.Arg290Gly
ENST00000359692.10:c.868C>G	ENSP00000352721.6:p.Arg290Gly
ENST00000389253.8:c.868C>G	ENSP00000373905.3:p.Arg290Gly
ENST00000408974.8:c.868C>G	ENSP00000386192.3:p.Arg290Gly
ENST00000585892.5:c.868C>G	ENSP00000468734.1:p.Arg290Gly
ENST00000586130.1:n.153C>G
ENST00000587485.1:n.374C>G
ENST00000587830.2:c.124C>G	ENSP00000466603.2:p.Arg42Gly
ENST00000591701.5:n.228C>G
NM_001005360.2:c.868C>G	NP_001005360.1:p.Arg290Gly
NM_001005361.2:c.868C>G	NP_001005361.1:p.Arg290Gly
NM_001005362.2:c.868C>G	NP_001005362.1:p.Arg290Gly
NM_001190716.1:c.868C>G	NP_001177645.1:p.Arg290Gly
NM_004945.3:c.868C>G	NP_004936.2:p.Arg290Gly
NM_001005361.3:c.868C>G MANE Select	NP_001005361.1:p.Arg290Gly
NM_001190716.2:c.868C>G	NP_001177645.1:p.Arg290Gly
NM_001005360.3:c.868C>G	NP_001005360.1:p.Arg290Gly
NM_001005362.3:c.868C>G	NP_001005362.1:p.Arg290Gly
NM_004945.4:c.868C>G	NP_004936.2:p.Arg290Gly