Canonical Allele Identifier: CA118661

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7282
• ClinVar RCV Id: RCV000007705 ; RCV000145898 ; RCV000554046 ; RCV000626717 ; RCV000725988 ; RCV003914819
• dbSNP Id: rs121909092
• ExAC: 19:10904505 G / A
• gnomAD v2: 19-10904505-G-A
• MyVariant Identifiers: chr19:g.10904505G>A (hg19) ; chr19:g.10793829G>A (hg38)
• PubMed: PMID:16227997 ; PMID:17008356 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793829G>A , CM000681.2:g.10793829G>A	GRCh38
NC_000019.9:g.10904505G>A , CM000681.1:g.10904505G>A	GRCh37
NC_000019.8:g.10765505G>A	NCBI36
NG_008792.1:g.80751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1290G>A
ENST00000682524.1:n.1290G>A
ENST00000683738.1:n.1290G>A
ENST00000355667.11:c.1102G>A	ENSP00000347890.6:p.Glu368Lys
ENST00000389253.9:c.1102G>A MANE Select	ENSP00000373905.4:p.Glu368Lys
ENST00000355667.10:c.1102G>A	ENSP00000347890.6:p.Glu368Lys
ENST00000359692.10:c.1102G>A	ENSP00000352721.6:p.Glu368Lys
ENST00000389253.8:c.1102G>A	ENSP00000373905.3:p.Glu368Lys
ENST00000408974.8:c.1102G>A	ENSP00000386192.3:p.Glu368Lys
ENST00000585892.5:c.1102G>A	ENSP00000468734.1:p.Glu368Lys
ENST00000587830.2:c.358G>A	ENSP00000466603.2:p.Glu120Lys
ENST00000591701.5:n.462G>A
NM_001005360.2:c.1102G>A	NP_001005360.1:p.Glu368Lys
NM_001005361.2:c.1102G>A	NP_001005361.1:p.Glu368Lys
NM_001005362.2:c.1102G>A	NP_001005362.1:p.Glu368Lys
NM_001190716.1:c.1102G>A	NP_001177645.1:p.Glu368Lys
NM_004945.3:c.1102G>A	NP_004936.2:p.Glu368Lys
NM_001005361.3:c.1102G>A MANE Select	NP_001005361.1:p.Glu368Lys
NM_001190716.2:c.1102G>A	NP_001177645.1:p.Glu368Lys
NM_001005360.3:c.1102G>A	NP_001005360.1:p.Glu368Lys
NM_001005362.3:c.1102G>A	NP_001005362.1:p.Glu368Lys
NM_004945.4:c.1102G>A	NP_004936.2:p.Glu368Lys