Canonical Allele Identifier: CA9200735

Gene: DNM2

Linked Data

• ClinVar Variation Id: 288960
• ClinVar RCV Id: RCV000348245 ; RCV001477641
• dbSNP Id: rs769906659
• ExAC: 19:10870497 G / A
• gnomAD v4: 19-10759821-G-A
• MyVariant Identifiers: chr19:g.10870497G>A (hg19) ; chr19:g.10759821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10759821G>A , CM000681.2:g.10759821G>A	GRCh38
NC_000019.9:g.10870497G>A , CM000681.1:g.10870497G>A	GRCh37
NC_000019.8:g.10731497G>A	NCBI36
NG_008792.1:g.46743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.423+10G>A
ENST00000682524.1:n.423+10G>A
ENST00000683738.1:n.423+10G>A
ENST00000355667.11:c.235+10G>A	ENSP00000347890.6:n.235+10G>A
ENST00000389253.9:c.235+10G>A MANE Select	ENSP00000373905.4:n.235+10G>A
ENST00000355667.10:c.235+10G>A	ENSP00000347890.6:n.235+10G>A
ENST00000359692.10:c.235+10G>A	ENSP00000352721.6:n.235+10G>A
ENST00000389253.8:c.235+10G>A	ENSP00000373905.3:n.235+10G>A
ENST00000408974.8:c.235+10G>A	ENSP00000386192.3:n.235+10G>A
ENST00000585892.5:c.235+10G>A	ENSP00000468734.1:n.235+10G>A
ENST00000586939.5:c.-240+10G>A	ENSP00000467430.1:n.-240+10G>A
NM_001005360.2:c.235+10G>A	NP_001005360.1:n.235+10G>A
NM_001005361.2:c.235+10G>A	NP_001005361.1:n.235+10G>A
NM_001005362.2:c.235+10G>A	NP_001005362.1:n.235+10G>A
NM_001190716.1:c.235+10G>A	NP_001177645.1:n.235+10G>A
NM_004945.3:c.235+10G>A	NP_004936.2:n.235+10G>A
NM_001005361.3:c.235+10G>A MANE Select	NP_001005361.1:n.235+10G>A
NM_001190716.2:c.235+10G>A	NP_001177645.1:n.235+10G>A
NM_001005360.3:c.235+10G>A	NP_001005360.1:n.235+10G>A
NM_001005362.3:c.235+10G>A	NP_001005362.1:n.235+10G>A
NM_004945.4:c.235+10G>A	NP_004936.2:n.235+10G>A