Canonical Allele Identifier: CA144625

Gene: DNM2

Linked Data

• ClinVar Variation Id: 60688
• ClinVar RCV Id: RCV000054501 ; RCV003447110
• dbSNP Id: rs397514735
• MyVariant Identifiers: chr19:g.10906054T>G (hg19) ; chr19:g.10795378T>G (hg38)
• PubMed: PMID:23092955

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10795378T>G , CM000681.2:g.10795378T>G	GRCh38
NC_000019.9:g.10906054T>G , CM000681.1:g.10906054T>G	GRCh37
NC_000019.8:g.10767054T>G	NCBI36
NG_008792.1:g.82300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.1323T>G
ENST00000683738.1:n.1323T>G
ENST00000355667.11:c.1135T>G	ENSP00000347890.6:p.Phe379Val
ENST00000389253.9:c.1135T>G MANE Select	ENSP00000373905.4:p.Phe379Val
ENST00000355667.10:c.1135T>G	ENSP00000347890.6:p.Phe379Val
ENST00000359692.10:c.1135T>G	ENSP00000352721.6:p.Phe379Val
ENST00000389253.8:c.1135T>G	ENSP00000373905.3:p.Phe379Val
ENST00000408974.8:c.1135T>G	ENSP00000386192.3:p.Phe379Val
ENST00000585892.5:c.1135T>G	ENSP00000468734.1:p.Phe379Val
ENST00000587830.2:c.391T>G	ENSP00000466603.2:p.Phe131Val
ENST00000591701.5:n.495T>G
NM_001005360.2:c.1135T>G	NP_001005360.1:p.Phe379Val
NM_001005361.2:c.1135T>G	NP_001005361.1:p.Phe379Val
NM_001005362.2:c.1135T>G	NP_001005362.1:p.Phe379Val
NM_001190716.1:c.1135T>G	NP_001177645.1:p.Phe379Val
NM_004945.3:c.1135T>G	NP_004936.2:p.Phe379Val
NM_001005361.3:c.1135T>G MANE Select	NP_001005361.1:p.Phe379Val
NM_001190716.2:c.1135T>G	NP_001177645.1:p.Phe379Val
NM_001005360.3:c.1135T>G	NP_001005360.1:p.Phe379Val
NM_001005362.3:c.1135T>G	NP_001005362.1:p.Phe379Val
NM_004945.4:c.1135T>G	NP_004936.2:p.Phe379Val