Canonical Allele Identifier: CA9200743

Gene: DNM2

Linked Data

• ClinVar Variation Id: 256866
• ClinVar RCV Id: RCV000244035 ; RCV001658186 ; RCV001658185 ; RCV001658187 ; RCV001711665
• dbSNP Id: rs3826803
• ExAC: 19:10883126 C / G
• gnomAD v2: 19-10883126-C-G
• gnomAD v3: 19-10772450-C-G
• gnomAD v4: 19-10772450-C-G
• MyVariant Identifiers: chr19:g.10883126C>G (hg19) ; chr19:g.10772450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10772450C>G , CM000681.2:g.10772450C>G	GRCh38
NC_000019.9:g.10883126C>G , CM000681.1:g.10883126C>G	GRCh37
NC_000019.8:g.10744126C>G	NCBI36
NG_008792.1:g.59372C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.424-29C>G
ENST00000682524.1:n.424-29C>G
ENST00000683738.1:n.424-29C>G
ENST00000355667.11:c.236-29C>G	ENSP00000347890.6:n.236-29C>G
ENST00000389253.9:c.236-29C>G MANE Select	ENSP00000373905.4:n.236-29C>G
ENST00000355667.10:c.236-29C>G	ENSP00000347890.6:n.236-29C>G
ENST00000359692.10:c.236-29C>G	ENSP00000352721.6:n.236-29C>G
ENST00000389253.8:c.236-29C>G	ENSP00000373905.3:n.236-29C>G
ENST00000408974.8:c.236-29C>G	ENSP00000386192.3:n.236-29C>G
ENST00000585892.5:c.236-29C>G	ENSP00000468734.1:n.236-29C>G
ENST00000586939.5:c.-239-29C>G	ENSP00000467430.1:n.-239-29C>G
ENST00000587991.5:n.311-29C>G
ENST00000591266.1:n.519-29C>G
ENST00000591819.1:n.159-29C>G
NM_001005360.2:c.236-29C>G	NP_001005360.1:n.236-29C>G
NM_001005361.2:c.236-29C>G	NP_001005361.1:n.236-29C>G
NM_001005362.2:c.236-29C>G	NP_001005362.1:n.236-29C>G
NM_001190716.1:c.236-29C>G	NP_001177645.1:n.236-29C>G
NM_004945.3:c.236-29C>G	NP_004936.2:n.236-29C>G
NM_001005361.3:c.236-29C>G MANE Select	NP_001005361.1:n.236-29C>G
NM_001190716.2:c.236-29C>G	NP_001177645.1:n.236-29C>G
NM_001005360.3:c.236-29C>G	NP_001005360.1:n.236-29C>G
NM_001005362.3:c.236-29C>G	NP_001005362.1:n.236-29C>G
NM_004945.4:c.236-29C>G	NP_004936.2:n.236-29C>G