Canonical Allele Identifier: CA404041171

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10823886C>A , CM000681.2:g.10823886C>A	GRCh38
NC_000019.9:g.10934562C>A , CM000681.1:g.10934562C>A	GRCh37
NC_000019.8:g.10795562C>A	NCBI36
NG_008792.1:g.110808C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.1880C>A MANE Select	NP_001005361.1:p.Pro627His
ENST00000389253.9:c.1880C>A MANE Select	ENSP00000373905.4:p.Pro627His
NM_001005360.2:c.1880C>A	NP_001005360.1:p.Pro627His
NM_001005360.3:c.1880C>A	NP_001005360.1:p.Pro627His
NM_001005361.2:c.1880C>A	NP_001005361.1:p.Pro627His
NM_001005362.2:c.1868C>A	NP_001005362.1:p.Pro623His
NM_001005362.3:c.1868C>A	NP_001005362.1:p.Pro623His
NM_001190716.1:c.1880C>A	NP_001177645.1:p.Pro627His
NM_001190716.2:c.1880C>A	NP_001177645.1:p.Pro627His
NM_004945.3:c.1868C>A	NP_004936.2:p.Pro623His
NM_004945.4:c.1868C>A	NP_004936.2:p.Pro623His
ENST00000355667.10:c.1880C>A	ENSP00000347890.6:p.Pro627His
ENST00000355667.11:c.1880C>A	ENSP00000347890.6:p.Pro627His
ENST00000359692.10:c.1868C>A	ENSP00000352721.6:p.Pro623His
ENST00000389253.8:c.1880C>A	ENSP00000373905.3:p.Pro627His
ENST00000408974.8:c.1868C>A	ENSP00000386192.3:p.Pro623His
ENST00000585892.5:c.1880C>A	ENSP00000468734.1:p.Pro627His
ENST00000590787.1:n.3379C>A
ENST00000590806.5:n.4068C>A
ENST00000593203.1:n.663C>A
ENST00000681972.1:n.1311C>A