Canonical Allele Identifier: CA248603

Gene: DNM2

Linked Data

• ClinVar Variation Id: 7287
• ClinVar RCV Id: RCV000007710 ; RCV000203266 ; RCV000369987
• dbSNP Id: rs267606772
• MyVariant Identifiers: chr19:g.10904475G>A (hg19) ; chr19:g.10793799G>A (hg38)
• PubMed: PMID:18560793 ; PMID:19502294 ; PMID:22096584 ; PMID:22451505 ; PMID:25259927

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793799G>A , CM000681.2:g.10793799G>A	GRCh38
NC_000019.9:g.10904475G>A , CM000681.1:g.10904475G>A	GRCh37
NC_000019.8:g.10765475G>A	NCBI36
NG_008792.1:g.80721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1260G>A
ENST00000682524.1:n.1260G>A
ENST00000683738.1:n.1260G>A
ENST00000355667.11:c.1072G>A	ENSP00000347890.6:p.Gly358Arg
ENST00000389253.9:c.1072G>A MANE Select	ENSP00000373905.4:p.Gly358Arg
ENST00000355667.10:c.1072G>A	ENSP00000347890.6:p.Gly358Arg
ENST00000359692.10:c.1072G>A	ENSP00000352721.6:p.Gly358Arg
ENST00000389253.8:c.1072G>A	ENSP00000373905.3:p.Gly358Arg
ENST00000408974.8:c.1072G>A	ENSP00000386192.3:p.Gly358Arg
ENST00000585892.5:c.1072G>A	ENSP00000468734.1:p.Gly358Arg
ENST00000587830.2:c.328G>A	ENSP00000466603.2:p.Gly110Arg
ENST00000591701.5:n.432G>A
NM_001005360.2:c.1072G>A	NP_001005360.1:p.Gly358Arg
NM_001005361.2:c.1072G>A	NP_001005361.1:p.Gly358Arg
NM_001005362.2:c.1072G>A	NP_001005362.1:p.Gly358Arg
NM_001190716.1:c.1072G>A	NP_001177645.1:p.Gly358Arg
NM_004945.3:c.1072G>A	NP_004936.2:p.Gly358Arg
NM_001005361.3:c.1072G>A MANE Select	NP_001005361.1:p.Gly358Arg
NM_001190716.2:c.1072G>A	NP_001177645.1:p.Gly358Arg
NM_001005360.3:c.1072G>A	NP_001005360.1:p.Gly358Arg
NM_001005362.3:c.1072G>A	NP_001005362.1:p.Gly358Arg
NM_004945.4:c.1072G>A	NP_004936.2:p.Gly358Arg