Canonical Allele Identifier: CA118652

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7277
• ClinVar RCV Id: RCV000007700 ; RCV000789618 ; RCV003447076
• dbSNP Id: rs121909088
• MyVariant Identifiers: chr19:g.10930668A>G (hg19) ; chr19:g.10819992A>G (hg38)
• PubMed: PMID:15731758

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10819992A>G , CM000681.2:g.10819992A>G	GRCh38
NC_000019.9:g.10930668A>G , CM000681.1:g.10930668A>G	GRCh37
NC_000019.8:g.10791668A>G	NCBI36
NG_008792.1:g.106914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1115A>G
ENST00000355667.11:c.1684A>G	ENSP00000347890.6:p.Lys562Glu
ENST00000389253.9:c.1684A>G MANE Select	ENSP00000373905.4:p.Lys562Glu
ENST00000355667.10:c.1684A>G	ENSP00000347890.6:p.Lys562Glu
ENST00000359692.10:c.1672A>G	ENSP00000352721.6:p.Lys558Glu
ENST00000389253.8:c.1684A>G	ENSP00000373905.3:p.Lys562Glu
ENST00000408974.8:c.1672A>G	ENSP00000386192.3:p.Lys558Glu
ENST00000585892.5:c.1684A>G	ENSP00000468734.1:p.Lys562Glu
ENST00000590787.1:n.3183A>G
ENST00000590806.5:n.3872A>G
NM_001005360.2:c.1684A>G	NP_001005360.1:p.Lys562Glu
NM_001005361.2:c.1684A>G	NP_001005361.1:p.Lys562Glu
NM_001005362.2:c.1672A>G	NP_001005362.1:p.Lys558Glu
NM_001190716.1:c.1684A>G	NP_001177645.1:p.Lys562Glu
NM_004945.3:c.1672A>G	NP_004936.2:p.Lys558Glu
NM_001005361.3:c.1684A>G MANE Select	NP_001005361.1:p.Lys562Glu
NM_001190716.2:c.1684A>G	NP_001177645.1:p.Lys562Glu
NM_001005360.3:c.1684A>G	NP_001005360.1:p.Lys562Glu
NM_001005362.3:c.1672A>G	NP_001005362.1:p.Lys558Glu
NM_004945.4:c.1672A>G	NP_004936.2:p.Lys558Glu