Canonical Allele Identifier: CA118652
Gene: DNM2 HGNC NCBI

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
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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
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