Canonical Allele Identifier: CA172101

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158514
• ClinVar RCV Id: RCV000145903 ; RCV000275646 ; RCV000552861 ; RCV000679888 ; RCV002252002
• dbSNP Id: rs587783595
• gnomAD v4: 19-10812271-G-A
• COSMIC: COSM2813220 ; COSM2813221 ; COSM4277686
• MyVariant Identifiers: chr19:g.10922947G>A (hg19) ; chr19:g.10812271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10812271G>A , CM000681.2:g.10812271G>A	GRCh38
NC_000019.9:g.10922947G>A , CM000681.1:g.10922947G>A	GRCh37
NC_000019.8:g.10783947G>A	NCBI36
NG_008792.1:g.99193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.996G>A
ENST00000355667.11:c.1565G>A	ENSP00000347890.6:p.Arg522His
ENST00000389253.9:c.1565G>A MANE Select	ENSP00000373905.4:p.Arg522His
ENST00000355667.10:c.1565G>A	ENSP00000347890.6:p.Arg522His
ENST00000359692.10:c.1553G>A	ENSP00000352721.6:p.Arg518His
ENST00000389253.8:c.1565G>A	ENSP00000373905.3:p.Arg522His
ENST00000408974.8:c.1553G>A	ENSP00000386192.3:p.Arg518His
ENST00000585892.5:c.1565G>A	ENSP00000468734.1:p.Arg522His
ENST00000587830.2:c.839G>A	ENSP00000466603.2:p.Arg280His
ENST00000590787.1:n.3064G>A
ENST00000590806.5:n.3753G>A
NM_001005360.2:c.1565G>A	NP_001005360.1:p.Arg522His
NM_001005361.2:c.1565G>A	NP_001005361.1:p.Arg522His
NM_001005362.2:c.1553G>A	NP_001005362.1:p.Arg518His
NM_001190716.1:c.1565G>A	NP_001177645.1:p.Arg522His
NM_004945.3:c.1553G>A	NP_004936.2:p.Arg518His
NM_001005361.3:c.1565G>A MANE Select	NP_001005361.1:p.Arg522His
NM_001190716.2:c.1565G>A	NP_001177645.1:p.Arg522His
NM_001005360.3:c.1565G>A	NP_001005360.1:p.Arg522His
NM_001005362.3:c.1553G>A	NP_001005362.1:p.Arg518His
NM_004945.4:c.1553G>A	NP_004936.2:p.Arg518His