Canonical Allele Identifier: CA9200887

Gene: DNM2

Linked Data

• ClinVar Variation Id: 287974
• ClinVar RCV Id: RCV000281869 ; RCV000294080 ; RCV000333450 ; RCV000863127 ; RCV002411166 ; RCV003940046
• dbSNP Id: rs199976453
• ExAC: 19:10893736 G / A
• gnomAD v2: 19-10893736-G-A
• gnomAD v3: 19-10783060-G-A
• gnomAD v4: 19-10783060-G-A
• MyVariant Identifiers: chr19:g.10893736G>A (hg19) ; chr19:g.10783060G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10783060G>A , CM000681.2:g.10783060G>A	GRCh38
NC_000019.9:g.10893736G>A , CM000681.1:g.10893736G>A	GRCh37
NC_000019.8:g.10754736G>A	NCBI36
NG_008792.1:g.69982G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682285.1:n.977G>A
ENST00000682524.1:n.977G>A
ENST00000683738.1:n.977G>A
ENST00000355667.11:c.789G>A	ENSP00000347890.6:p.Pro263=
ENST00000389253.9:c.789G>A MANE Select	ENSP00000373905.4:p.Pro263=
ENST00000355667.10:c.789G>A	ENSP00000347890.6:p.Pro263=
ENST00000359692.10:c.789G>A	ENSP00000352721.6:p.Pro263=
ENST00000389253.8:c.789G>A	ENSP00000373905.3:p.Pro263=
ENST00000408974.8:c.789G>A	ENSP00000386192.3:p.Pro263=
ENST00000585892.5:c.789G>A	ENSP00000468734.1:p.Pro263=
ENST00000587485.1:n.295G>A
ENST00000587830.2:c.45G>A	ENSP00000466603.2:p.Pro15=
ENST00000591118.1:n.523G>A
ENST00000591701.5:n.149G>A
NM_001005360.2:c.789G>A	NP_001005360.1:p.Pro263=
NM_001005361.2:c.789G>A	NP_001005361.1:p.Pro263=
NM_001005362.2:c.789G>A	NP_001005362.1:p.Pro263=
NM_001190716.1:c.789G>A	NP_001177645.1:p.Pro263=
NM_004945.3:c.789G>A	NP_004936.2:p.Pro263=
NM_001005361.3:c.789G>A MANE Select	NP_001005361.1:p.Pro263=
NM_001190716.2:c.789G>A	NP_001177645.1:p.Pro263=
NM_001005360.3:c.789G>A	NP_001005360.1:p.Pro263=
NM_001005362.3:c.789G>A	NP_001005362.1:p.Pro263=
NM_004945.4:c.789G>A	NP_004936.2:p.Pro263=