Canonical Allele Identifier: CA404041440

Gene: DNM2

Linked Data

• MyVariant Identifiers: chr19:g.10883167T>A (hg19) ; chr19:g.10772491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10772491T>A , CM000681.2:g.10772491T>A	GRCh38
NC_000019.9:g.10883167T>A , CM000681.1:g.10883167T>A	GRCh37
NC_000019.8:g.10744167T>A	NCBI36
NG_008792.1:g.59413T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.436T>A
ENST00000682524.1:n.436T>A
ENST00000683738.1:n.436T>A
ENST00000355667.11:c.248T>A	ENSP00000347890.6:p.Phe83Tyr
ENST00000389253.9:c.248T>A MANE Select	ENSP00000373905.4:p.Phe83Tyr
ENST00000355667.10:c.248T>A	ENSP00000347890.6:p.Phe83Tyr
ENST00000359692.10:c.248T>A	ENSP00000352721.6:p.Phe83Tyr
ENST00000389253.8:c.248T>A	ENSP00000373905.3:p.Phe83Tyr
ENST00000408974.8:c.248T>A	ENSP00000386192.3:p.Phe83Tyr
ENST00000585892.5:c.248T>A	ENSP00000468734.1:p.Phe83Tyr
ENST00000586939.5:c.-227T>A	ENSP00000467430.1:n.-227T>A
ENST00000587991.5:n.323T>A
ENST00000591266.1:n.531T>A
ENST00000591819.1:n.171T>A
NM_001005360.2:c.248T>A	NP_001005360.1:p.Phe83Tyr
NM_001005361.2:c.248T>A	NP_001005361.1:p.Phe83Tyr
NM_001005362.2:c.248T>A	NP_001005362.1:p.Phe83Tyr
NM_001190716.1:c.248T>A	NP_001177645.1:p.Phe83Tyr
NM_004945.3:c.248T>A	NP_004936.2:p.Phe83Tyr
NM_001005361.3:c.248T>A MANE Select	NP_001005361.1:p.Phe83Tyr
NM_001190716.2:c.248T>A	NP_001177645.1:p.Phe83Tyr
NM_001005360.3:c.248T>A	NP_001005360.1:p.Phe83Tyr
NM_001005362.3:c.248T>A	NP_001005362.1:p.Phe83Tyr
NM_004945.4:c.248T>A	NP_004936.2:p.Phe83Tyr