Canonical Allele Identifier: CA207708

Gene: DNM2

Linked Data

• ClinVar Variation Id: 210854
• ClinVar RCV Id: RCV000193911 ; RCV000766852 ; RCV002415823 ; RCV003507263
• dbSNP Id: rs753175954
• gnomAD v2: 19-10935812-A-G
• gnomAD v3: 19-10825136-A-G
• gnomAD v4: 19-10825136-A-G
• COSMIC: COSM1250482 ; COSM1250483 ; COSM4167829
• MyVariant Identifiers: chr19:g.10935812A>G (hg19) ; chr19:g.10825136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10825136A>G , CM000681.2:g.10825136A>G	GRCh38
NC_000019.9:g.10935812A>G , CM000681.1:g.10935812A>G	GRCh37
NC_000019.8:g.10796812A>G	NCBI36
NG_008792.1:g.112058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1404A>G
ENST00000355667.11:c.1973A>G	ENSP00000347890.6:p.Asn658Ser
ENST00000389253.9:c.1973A>G MANE Select	ENSP00000373905.4:p.Asn658Ser
ENST00000355667.10:c.1973A>G	ENSP00000347890.6:p.Asn658Ser
ENST00000359692.10:c.1961A>G	ENSP00000352721.6:p.Asn654Ser
ENST00000389253.8:c.1973A>G	ENSP00000373905.3:p.Asn658Ser
ENST00000408974.8:c.1961A>G	ENSP00000386192.3:p.Asn654Ser
ENST00000585892.5:c.1973A>G	ENSP00000468734.1:p.Asn658Ser
ENST00000590806.5:n.4161A>G
ENST00000593203.1:n.756A>G
NM_001005360.2:c.1973A>G	NP_001005360.1:p.Asn658Ser
NM_001005361.2:c.1973A>G	NP_001005361.1:p.Asn658Ser
NM_001005362.2:c.1961A>G	NP_001005362.1:p.Asn654Ser
NM_001190716.1:c.1973A>G	NP_001177645.1:p.Asn658Ser
NM_004945.3:c.1961A>G	NP_004936.2:p.Asn654Ser
NM_001005361.3:c.1973A>G MANE Select	NP_001005361.1:p.Asn658Ser
NM_001190716.2:c.1973A>G	NP_001177645.1:p.Asn658Ser
NM_001005360.3:c.1973A>G	NP_001005360.1:p.Asn658Ser
NM_001005362.3:c.1961A>G	NP_001005362.1:p.Asn654Ser
NM_004945.4:c.1961A>G	NP_004936.2:p.Asn654Ser