Canonical Allele Identifier: CA9201618

Gene: DNM2

Linked Data

• ClinVar Variation Id: 327989
• ClinVar RCV Id: RCV000324534 ; RCV000550926 ; RCV001731600 ; RCV002446589
• dbSNP Id: rs200968756
• ExAC: 19:10940929 G / A
• gnomAD v2: 19-10940929-G-A
• gnomAD v3: 19-10830253-G-A
• gnomAD v4: 19-10830253-G-A
• COSMIC: COSM4073994 ; COSM4073995 ; COSM4073996
• MyVariant Identifiers: chr19:g.10940929G>A (hg19) ; chr19:g.10830253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10830253G>A , CM000681.2:g.10830253G>A	GRCh38
NC_000019.9:g.10940929G>A , CM000681.1:g.10940929G>A	GRCh37
NC_000019.8:g.10801929G>A	NCBI36
NG_008792.1:g.117175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681972.1:n.1849G>A
ENST00000355667.11:c.2418G>A	ENSP00000347890.6:p.Ala806=
ENST00000389253.9:c.2418G>A MANE Select	ENSP00000373905.4:p.Ala806=
ENST00000355667.10:c.2418G>A	ENSP00000347890.6:p.Ala806=
ENST00000359692.10:c.2406G>A	ENSP00000352721.6:p.Ala802=
ENST00000389253.8:c.2418G>A	ENSP00000373905.3:p.Ala806=
ENST00000408974.8:c.2406G>A	ENSP00000386192.3:p.Ala802=
ENST00000585892.5:c.2418G>A	ENSP00000468734.1:p.Ala806=
ENST00000589106.1:c.284G>A
ENST00000590806.5:n.4606G>A
ENST00000593203.1:n.1201G>A
NM_001005360.2:c.2418G>A	NP_001005360.1:p.Ala806=
NM_001005361.2:c.2418G>A	NP_001005361.1:p.Ala806=
NM_001005362.2:c.2406G>A	NP_001005362.1:p.Ala802=
NM_001190716.1:c.2418G>A	NP_001177645.1:p.Ala806=
NM_004945.3:c.2406G>A	NP_004936.2:p.Ala802=
NM_001005361.3:c.2418G>A MANE Select	NP_001005361.1:p.Ala806=
NM_001190716.2:c.2418G>A	NP_001177645.1:p.Ala806=
NM_001005360.3:c.2418G>A	NP_001005360.1:p.Ala806=
NM_001005362.3:c.2406G>A	NP_001005362.1:p.Ala802=
NM_004945.4:c.2406G>A	NP_004936.2:p.Ala802=