Canonical Allele Identifier: CA172095

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158513
• ClinVar RCV Id: RCV000145901
• dbSNP Id: rs587783594
• MyVariant Identifiers: chr19:g.10904527T>A (hg19) ; chr19:g.10793851T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10793851T>A , CM000681.2:g.10793851T>A	GRCh38
NC_000019.9:g.10904527T>A , CM000681.1:g.10904527T>A	GRCh37
NC_000019.8:g.10765527T>A	NCBI36
NG_008792.1:g.80773T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1312T>A
ENST00000682524.1:n.1312T>A
ENST00000683738.1:n.1312T>A
ENST00000355667.11:c.1124T>A	ENSP00000347890.6:p.Val375Glu
ENST00000389253.9:c.1124T>A MANE Select	ENSP00000373905.4:p.Val375Glu
ENST00000355667.10:c.1124T>A	ENSP00000347890.6:p.Val375Glu
ENST00000359692.10:c.1124T>A	ENSP00000352721.6:p.Val375Glu
ENST00000389253.8:c.1124T>A	ENSP00000373905.3:p.Val375Glu
ENST00000408974.8:c.1124T>A	ENSP00000386192.3:p.Val375Glu
ENST00000585892.5:c.1124T>A	ENSP00000468734.1:p.Val375Glu
ENST00000587830.2:c.380T>A	ENSP00000466603.2:p.Val127Glu
ENST00000591701.5:n.484T>A
NM_001005360.2:c.1124T>A	NP_001005360.1:p.Val375Glu
NM_001005361.2:c.1124T>A	NP_001005361.1:p.Val375Glu
NM_001005362.2:c.1124T>A	NP_001005362.1:p.Val375Glu
NM_001190716.1:c.1124T>A	NP_001177645.1:p.Val375Glu
NM_004945.3:c.1124T>A	NP_004936.2:p.Val375Glu
NM_001005361.3:c.1124T>A MANE Select	NP_001005361.1:p.Val375Glu
NM_001190716.2:c.1124T>A	NP_001177645.1:p.Val375Glu
NM_001005360.3:c.1124T>A	NP_001005360.1:p.Val375Glu
NM_001005362.3:c.1124T>A	NP_001005362.1:p.Val375Glu
NM_004945.4:c.1124T>A	NP_004936.2:p.Val375Glu