Canonical Allele Identifier: CA404043224

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10829246C>A , CM000681.2:g.10829246C>A	GRCh38
NC_000019.9:g.10939922C>A , CM000681.1:g.10939922C>A	GRCh37
NC_000019.8:g.10800922C>A	NCBI36
NG_008792.1:g.116168C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.2269C>A MANE Select	NP_001005361.1:p.Leu757Ile
ENST00000389253.9:c.2269C>A MANE Select	ENSP00000373905.4:p.Leu757Ile
NM_001005360.2:c.2269C>A	NP_001005360.1:p.Leu757Ile
NM_001005360.3:c.2269C>A	NP_001005360.1:p.Leu757Ile
NM_001005361.2:c.2269C>A	NP_001005361.1:p.Leu757Ile
NM_001005362.2:c.2257C>A	NP_001005362.1:p.Leu753Ile
NM_001005362.3:c.2257C>A	NP_001005362.1:p.Leu753Ile
NM_001190716.1:c.2269C>A	NP_001177645.1:p.Leu757Ile
NM_001190716.2:c.2269C>A	NP_001177645.1:p.Leu757Ile
NM_004945.3:c.2257C>A	NP_004936.2:p.Leu753Ile
NM_004945.4:c.2257C>A	NP_004936.2:p.Leu753Ile
ENST00000355667.10:c.2269C>A	ENSP00000347890.6:p.Leu757Ile
ENST00000355667.11:c.2269C>A	ENSP00000347890.6:p.Leu757Ile
ENST00000359692.10:c.2257C>A	ENSP00000352721.6:p.Leu753Ile
ENST00000389253.8:c.2269C>A	ENSP00000373905.3:p.Leu757Ile
ENST00000408974.8:c.2257C>A	ENSP00000386192.3:p.Leu753Ile
ENST00000585892.5:c.2269C>A	ENSP00000468734.1:p.Leu757Ile
ENST00000589106.1:c.135C>A
ENST00000590806.5:n.4457C>A
ENST00000593203.1:n.1052C>A
ENST00000681972.1:n.1700C>A