Canonical Allele Identifier: CA9201037

Gene: DNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10796116G>A , CM000681.2:g.10796116G>A	GRCh38
NC_000019.9:g.10906792G>A , CM000681.1:g.10906792G>A	GRCh37
NC_000019.8:g.10767792G>A	NCBI36
NG_008792.1:g.83038G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001005361.3:c.1196+677G>A MANE Select	NP_001005361.1:n.1196+677G>A
ENST00000389253.9:c.1196+677G>A MANE Select	ENSP00000373905.4:n.1196+677G>A
NM_001005360.2:c.1252G>A	NP_001005360.1:p.Val418Ile
NM_001005360.3:c.1252G>A	NP_001005360.1:p.Val418Ile
NM_001005361.2:c.1196+677G>A	NP_001005361.1:n.1196+677G>A
NM_001005362.2:c.1196+677G>A	NP_001005362.1:n.1196+677G>A
NM_001005362.3:c.1196+677G>A	NP_001005362.1:n.1196+677G>A
NM_001190716.1:c.1252G>A	NP_001177645.1:p.Val418Ile
NM_001190716.2:c.1252G>A	NP_001177645.1:p.Val418Ile
NM_004945.3:c.1252G>A	NP_004936.2:p.Val418Ile
NM_004945.4:c.1252G>A	NP_004936.2:p.Val418Ile
ENST00000355667.10:c.1252G>A	ENSP00000347890.6:p.Val418Ile
ENST00000355667.11:c.1252G>A	ENSP00000347890.6:p.Val418Ile
ENST00000359692.10:c.1252G>A	ENSP00000352721.6:p.Val418Ile
ENST00000389253.8:c.1196+677G>A	ENSP00000373905.3:n.1196+677G>A
ENST00000408974.8:c.1196+677G>A	ENSP00000386192.3:n.1196+677G>A
ENST00000585892.5:c.1252G>A	ENSP00000468734.1:p.Val418Ile
ENST00000587830.2:c.452+677G>A	ENSP00000466603.2:n.452+677G>A
ENST00000593220.1:n.401G>A
ENST00000682285.1:n.1384+677G>A
ENST00000683738.1:n.1440G>A