Canonical Allele Identifier: CA172110
Gene: DNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 7285
ClinVar RCV Id: RCV000145908 RCV000007708 RCV000544279 RCV000754751 RCV000656268 RCV002504764
dbSNP Id: rs121909095
COSMIC: COSM3891489 COSM3891490 COSM3891491
MyVariant Identifiers: chr19:g.10934538C>T (hg19) chr19:g.10823862C>T (hg38)
ERepo: CA172110/MONDO:0018947/148
PubMed: PMID:17932957
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10823862C>T , CM000681.2:g.10823862C>T GRCh38
NC_000019.9:g.10934538C>T , CM000681.1:g.10934538C>T GRCh37
NC_000019.8:g.10795538C>T NCBI36
NG_008792.1:g.110784C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681972.1:n.1287C>T
ENST00000355667.11:c.1856C>T ENSP00000347890.6:p.Ser619Leu
ENST00000389253.9:c.1856C>T MANE Select ENSP00000373905.4:p.Ser619Leu
ENST00000355667.10:c.1856C>T ENSP00000347890.6:p.Ser619Leu
ENST00000359692.10:c.1844C>T ENSP00000352721.6:p.Ser615Leu
ENST00000389253.8:c.1856C>T ENSP00000373905.3:p.Ser619Leu
ENST00000408974.8:c.1844C>T ENSP00000386192.3:p.Ser615Leu
ENST00000585892.5:c.1856C>T ENSP00000468734.1:p.Ser619Leu
ENST00000590787.1:n.3355C>T
ENST00000590806.5:n.4044C>T
ENST00000593203.1:n.639C>T
NM_001005360.2:c.1856C>T NP_001005360.1:p.Ser619Leu
NM_001005361.2:c.1856C>T NP_001005361.1:p.Ser619Leu
NM_001005362.2:c.1844C>T NP_001005362.1:p.Ser615Leu
NM_001190716.1:c.1856C>T NP_001177645.1:p.Ser619Leu
NM_004945.3:c.1844C>T NP_004936.2:p.Ser615Leu
NM_001005361.3:c.1856C>T MANE Select NP_001005361.1:p.Ser619Leu
NM_001190716.2:c.1856C>T NP_001177645.1:p.Ser619Leu
NM_001005360.3:c.1856C>T NP_001005360.1:p.Ser619Leu
NM_001005362.3:c.1844C>T NP_001005362.1:p.Ser615Leu
NM_004945.4:c.1844C>T NP_004936.2:p.Ser615Leu
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