Canonical Allele Identifier: CA404041079
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449326
ClinVar RCV Id: RCV000520544 RCV001384482
dbSNP Id: rs773598203
MyVariant Identifiers: chr19:g.10934534G>A (hg19) chr19:g.10823858G>A (hg38)
ERepo: CA404041079/MONDO:0018947/148
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10823858G>A , CM000681.2:g.10823858G>A GRCh38
NC_000019.9:g.10934534G>A , CM000681.1:g.10934534G>A GRCh37
NC_000019.8:g.10795534G>A NCBI36
NG_008792.1:g.110780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681972.1:n.1283G>A
ENST00000355667.11:c.1852G>A ENSP00000347890.6:p.Ala618Thr
ENST00000389253.9:c.1852G>A MANE Select ENSP00000373905.4:p.Ala618Thr
ENST00000355667.10:c.1852G>A ENSP00000347890.6:p.Ala618Thr
ENST00000359692.10:c.1840G>A ENSP00000352721.6:p.Ala614Thr
ENST00000389253.8:c.1852G>A ENSP00000373905.3:p.Ala618Thr
ENST00000408974.8:c.1840G>A ENSP00000386192.3:p.Ala614Thr
ENST00000585892.5:c.1852G>A ENSP00000468734.1:p.Ala618Thr
ENST00000590787.1:n.3351G>A
ENST00000590806.5:n.4040G>A
ENST00000593203.1:n.635G>A
NM_001005360.2:c.1852G>A NP_001005360.1:p.Ala618Thr
NM_001005361.2:c.1852G>A NP_001005361.1:p.Ala618Thr
NM_001005362.2:c.1840G>A NP_001005362.1:p.Ala614Thr
NM_001190716.1:c.1852G>A NP_001177645.1:p.Ala618Thr
NM_004945.3:c.1840G>A NP_004936.2:p.Ala614Thr
NM_001005361.3:c.1852G>A MANE Select NP_001005361.1:p.Ala618Thr
NM_001190716.2:c.1852G>A NP_001177645.1:p.Ala618Thr
NM_001005360.3:c.1852G>A NP_001005360.1:p.Ala618Thr
NM_001005362.3:c.1840G>A NP_001005362.1:p.Ala614Thr
NM_004945.4:c.1840G>A NP_004936.2:p.Ala614Thr
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