Canonical Allele Identifier: CA172134

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158528
• ClinVar RCV Id: RCV000145920 ; RCV000245493 ; RCV000457959 ; RCV001704068 ; RCV002408650
• dbSNP Id: rs201763720
• ExAC: 19:10893769 G / A
• gnomAD v2: 19-10893769-G-A
• gnomAD v3: 19-10783093-G-A
• gnomAD v4: 19-10783093-G-A
• MyVariant Identifiers: chr19:g.10893769G>A (hg19) ; chr19:g.10783093G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10783093G>A , CM000681.2:g.10783093G>A	GRCh38
NC_000019.9:g.10893769G>A , CM000681.1:g.10893769G>A	GRCh37
NC_000019.8:g.10754769G>A	NCBI36
NG_008792.1:g.70015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1010G>A
ENST00000682524.1:n.1010G>A
ENST00000683738.1:n.1010G>A
ENST00000355667.11:c.822G>A	ENSP00000347890.6:p.Thr274=
ENST00000389253.9:c.822G>A MANE Select	ENSP00000373905.4:p.Thr274=
ENST00000355667.10:c.822G>A	ENSP00000347890.6:p.Thr274=
ENST00000359692.10:c.822G>A	ENSP00000352721.6:p.Thr274=
ENST00000389253.8:c.822G>A	ENSP00000373905.3:p.Thr274=
ENST00000408974.8:c.822G>A	ENSP00000386192.3:p.Thr274=
ENST00000585892.5:c.822G>A	ENSP00000468734.1:p.Thr274=
ENST00000587485.1:n.328G>A
ENST00000587830.2:c.78G>A	ENSP00000466603.2:p.Thr26=
ENST00000591118.1:n.556G>A
ENST00000591701.5:n.182G>A
NM_001005360.2:c.822G>A	NP_001005360.1:p.Thr274=
NM_001005361.2:c.822G>A	NP_001005361.1:p.Thr274=
NM_001005362.2:c.822G>A	NP_001005362.1:p.Thr274=
NM_001190716.1:c.822G>A	NP_001177645.1:p.Thr274=
NM_004945.3:c.822G>A	NP_004936.2:p.Thr274=
NM_001005361.3:c.822G>A MANE Select	NP_001005361.1:p.Thr274=
NM_001190716.2:c.822G>A	NP_001177645.1:p.Thr274=
NM_001005360.3:c.822G>A	NP_001005360.1:p.Thr274=
NM_001005362.3:c.822G>A	NP_001005362.1:p.Thr274=
NM_004945.4:c.822G>A	NP_004936.2:p.Thr274=