Canonical Allele Identifier: CA254140

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7286
• ClinVar RCV Id: RCV000007709 ; RCV003447079 ; RCV003441708
• dbSNP Id: rs121909095
• MyVariant Identifiers: chr19:g.10934538C>G (hg19) ; chr19:g.10823862C>G (hg38)
• PubMed: PMID:17932957

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1287C>G
ENST00000355667.11:c.1856C>G	ENSP00000347890.6:p.Ser619Trp
ENST00000389253.9:c.1856C>G MANE Select	ENSP00000373905.4:p.Ser619Trp
ENST00000355667.10:c.1856C>G	ENSP00000347890.6:p.Ser619Trp
ENST00000359692.10:c.1844C>G	ENSP00000352721.6:p.Ser615Trp
ENST00000389253.8:c.1856C>G	ENSP00000373905.3:p.Ser619Trp
ENST00000408974.8:c.1844C>G	ENSP00000386192.3:p.Ser615Trp
ENST00000585892.5:c.1856C>G	ENSP00000468734.1:p.Ser619Trp
ENST00000590787.1:n.3355C>G
ENST00000590806.5:n.4044C>G
ENST00000593203.1:n.639C>G
NM_001005360.2:c.1856C>G	NP_001005360.1:p.Ser619Trp
NM_001005361.2:c.1856C>G	NP_001005361.1:p.Ser619Trp
NM_001005362.2:c.1844C>G	NP_001005362.1:p.Ser615Trp
NM_001190716.1:c.1856C>G	NP_001177645.1:p.Ser619Trp
NM_004945.3:c.1844C>G	NP_004936.2:p.Ser615Trp
NM_001005361.3:c.1856C>G MANE Select	NP_001005361.1:p.Ser619Trp
NM_001190716.2:c.1856C>G	NP_001177645.1:p.Ser619Trp
NM_001005360.3:c.1856C>G	NP_001005360.1:p.Ser619Trp
NM_001005362.3:c.1844C>G	NP_001005362.1:p.Ser615Trp
NM_004945.4:c.1844C>G	NP_004936.2:p.Ser615Trp