Canonical Allele Identifier: CA118667

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7284
• ClinVar RCV Id: RCV000007707 ; RCV000789619 ; RCV003447078
• dbSNP Id: rs121909094
• MyVariant Identifiers: chr19:g.10930693T>A (hg19) ; chr19:g.10820017T>A (hg38)
• PubMed: PMID:17636067

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10820017T>A , CM000681.2:g.10820017T>A	GRCh38
NC_000019.9:g.10930693T>A , CM000681.1:g.10930693T>A	GRCh37
NC_000019.8:g.10791693T>A	NCBI36
NG_008792.1:g.106939T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1140T>A
ENST00000355667.11:c.1709T>A	ENSP00000347890.6:p.Leu570His
ENST00000389253.9:c.1709T>A MANE Select	ENSP00000373905.4:p.Leu570His
ENST00000355667.10:c.1709T>A	ENSP00000347890.6:p.Leu570His
ENST00000359692.10:c.1697T>A	ENSP00000352721.6:p.Leu566His
ENST00000389253.8:c.1709T>A	ENSP00000373905.3:p.Leu570His
ENST00000408974.8:c.1697T>A	ENSP00000386192.3:p.Leu566His
ENST00000585892.5:c.1709T>A	ENSP00000468734.1:p.Leu570His
ENST00000590787.1:n.3208T>A
ENST00000590806.5:n.3897T>A
NM_001005360.2:c.1709T>A	NP_001005360.1:p.Leu570His
NM_001005361.2:c.1709T>A	NP_001005361.1:p.Leu570His
NM_001005362.2:c.1697T>A	NP_001005362.1:p.Leu566His
NM_001190716.1:c.1709T>A	NP_001177645.1:p.Leu570His
NM_004945.3:c.1697T>A	NP_004936.2:p.Leu566His
NM_001005361.3:c.1709T>A MANE Select	NP_001005361.1:p.Leu570His
NM_001190716.2:c.1709T>A	NP_001177645.1:p.Leu570His
NM_001005360.3:c.1709T>A	NP_001005360.1:p.Leu570His
NM_001005362.3:c.1697T>A	NP_001005362.1:p.Leu566His
NM_004945.4:c.1697T>A	NP_004936.2:p.Leu566His