Canonical Allele Identifier: CA645619679
Gene: DNM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10793817_10793818insT , CM000681.2:g.10793817_10793818insT GRCh38
NC_000019.9:g.10904493_10904494insT , CM000681.1:g.10904493_10904494insT GRCh37
NC_000019.8:g.10765493_10765494insT NCBI36
NG_008792.1:g.80739_80740insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682285.1:n.1278_1279insT
ENST00000682524.1:n.1278_1279insT
ENST00000683738.1:n.1278_1279insT
ENST00000355667.11:c.1090_1091insT ENSP00000347890.6:p.Arg364LeufsTer10
ENST00000389253.9:c.1090_1091insT MANE Select ENSP00000373905.4:p.Arg364LeufsTer10
ENST00000355667.10:c.1090_1091insT ENSP00000347890.6:p.Arg364LeufsTer10
ENST00000359692.10:c.1090_1091insT ENSP00000352721.6:p.Arg364LeufsTer10
ENST00000389253.8:c.1090_1091insT ENSP00000373905.3:p.Arg364LeufsTer10
ENST00000408974.8:c.1090_1091insT ENSP00000386192.3:p.Arg364LeufsTer10
ENST00000585892.5:c.1090_1091insT ENSP00000468734.1:p.Arg364LeufsTer10
ENST00000587830.2:c.346_347insT ENSP00000466603.2:p.Arg116LeufsTer10
ENST00000591701.5:n.450_451insT
NM_001005360.2:c.1090_1091insT NP_001005360.1:p.Arg364LeufsTer10
NM_001005361.2:c.1090_1091insT NP_001005361.1:p.Arg364LeufsTer10
NM_001005362.2:c.1090_1091insT NP_001005362.1:p.Arg364LeufsTer10
NM_001190716.1:c.1090_1091insT NP_001177645.1:p.Arg364LeufsTer10
NM_004945.3:c.1090_1091insT NP_004936.2:p.Arg364LeufsTer10
NM_001005361.3:c.1090_1091insT MANE Select NP_001005361.1:p.Arg364LeufsTer10
NM_001190716.2:c.1090_1091insT NP_001177645.1:p.Arg364LeufsTer10
NM_001005360.3:c.1090_1091insT NP_001005360.1:p.Arg364LeufsTer10
NM_001005362.3:c.1090_1091insT NP_001005362.1:p.Arg364LeufsTer10
NM_004945.4:c.1090_1091insT NP_004936.2:p.Arg364LeufsTer10