Canonical Allele Identifier: CA118664

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7283
• ClinVar RCV Id: RCV000007706 ; RCV000789617 ; RCV003447077
• dbSNP Id: rs121909093
• MyVariant Identifiers: chr19:g.10922991G>T (hg19) ; chr19:g.10812315G>T (hg38)
• PubMed: PMID:17636067

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10812315G>T , CM000681.2:g.10812315G>T	GRCh38
NC_000019.9:g.10922991G>T , CM000681.1:g.10922991G>T	GRCh37
NC_000019.8:g.10783991G>T	NCBI36
NG_008792.1:g.99237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1040G>T
ENST00000355667.11:c.1609G>T	ENSP00000347890.6:p.Gly537Cys
ENST00000389253.9:c.1609G>T MANE Select	ENSP00000373905.4:p.Gly537Cys
ENST00000355667.10:c.1609G>T	ENSP00000347890.6:p.Gly537Cys
ENST00000359692.10:c.1597G>T	ENSP00000352721.6:p.Gly533Cys
ENST00000389253.8:c.1609G>T	ENSP00000373905.3:p.Gly537Cys
ENST00000408974.8:c.1597G>T	ENSP00000386192.3:p.Gly533Cys
ENST00000585892.5:c.1609G>T	ENSP00000468734.1:p.Gly537Cys
ENST00000590787.1:n.3108G>T
ENST00000590806.5:n.3797G>T
NM_001005360.2:c.1609G>T	NP_001005360.1:p.Gly537Cys
NM_001005361.2:c.1609G>T	NP_001005361.1:p.Gly537Cys
NM_001005362.2:c.1597G>T	NP_001005362.1:p.Gly533Cys
NM_001190716.1:c.1609G>T	NP_001177645.1:p.Gly537Cys
NM_004945.3:c.1597G>T	NP_004936.2:p.Gly533Cys
NM_001005361.3:c.1609G>T MANE Select	NP_001005361.1:p.Gly537Cys
NM_001190716.2:c.1609G>T	NP_001177645.1:p.Gly537Cys
NM_001005360.3:c.1609G>T	NP_001005360.1:p.Gly537Cys
NM_001005362.3:c.1597G>T	NP_001005362.1:p.Gly533Cys
NM_004945.4:c.1597G>T	NP_004936.2:p.Gly533Cys