Canonical Allele Identifier: CA404045207

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10783017G>A , CM000681.2:g.10783017G>A	GRCh38
NC_000019.9:g.10893693G>A , CM000681.1:g.10893693G>A	GRCh37
NC_000019.8:g.10754693G>A	NCBI36
NG_008792.1:g.69939G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.746G>A MANE Select	NP_001005361.1:p.Arg249His
ENST00000389253.9:c.746G>A MANE Select	ENSP00000373905.4:p.Arg249His
NM_001005360.2:c.746G>A	NP_001005360.1:p.Arg249His
NM_001005360.3:c.746G>A	NP_001005360.1:p.Arg249His
NM_001005361.2:c.746G>A	NP_001005361.1:p.Arg249His
NM_001005362.2:c.746G>A	NP_001005362.1:p.Arg249His
NM_001005362.3:c.746G>A	NP_001005362.1:p.Arg249His
NM_001190716.1:c.746G>A	NP_001177645.1:p.Arg249His
NM_001190716.2:c.746G>A	NP_001177645.1:p.Arg249His
NM_004945.3:c.746G>A	NP_004936.2:p.Arg249His
NM_004945.4:c.746G>A	NP_004936.2:p.Arg249His
ENST00000355667.10:c.746G>A	ENSP00000347890.6:p.Arg249His
ENST00000355667.11:c.746G>A	ENSP00000347890.6:p.Arg249His
ENST00000359692.10:c.746G>A	ENSP00000352721.6:p.Arg249His
ENST00000389253.8:c.746G>A	ENSP00000373905.3:p.Arg249His
ENST00000408974.8:c.746G>A	ENSP00000386192.3:p.Arg249His
ENST00000585892.5:c.746G>A	ENSP00000468734.1:p.Arg249His
ENST00000587485.1:n.252G>A
ENST00000587830.2:c.2G>A	ENSP00000466603.2:p.Arg1His
ENST00000591118.1:n.480G>A
ENST00000591701.5:n.106G>A
ENST00000682285.1:n.934G>A
ENST00000682524.1:n.934G>A
ENST00000683738.1:n.934G>A