Canonical Allele Identifier: CA2322619034
Community Standard Title: NM_001005361.3(DNM2):c.1565G= (p.Arg522=)
Gene: DNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10812271G= , CM000681.2:g.10812271G= GRCh38
NC_000019.9:g.10922947G= , CM000681.1:g.10922947G= GRCh37
NC_000019.8:g.10783947G= NCBI36
NG_008792.1:g.99193G=

Transcript Alleles

HGVS Amino-acid Change
NM_001005361.3:c.1565G= MANE Select NP_001005361.1:p.Arg522=
ENST00000389253.9:c.1565G= MANE Select ENSP00000373905.4:p.Arg522=
NM_001005360.2:c.1565G= NP_001005360.1:p.Arg522=
NM_001005360.3:c.1565G= NP_001005360.1:p.Arg522=
NM_001005361.2:c.1565G= NP_001005361.1:p.Arg522=
NM_001005362.2:c.1553G= NP_001005362.1:p.Arg518=
NM_001005362.3:c.1553G= NP_001005362.1:p.Arg518=
NM_001190716.1:c.1565G= NP_001177645.1:p.Arg522=
NM_001190716.2:c.1565G= NP_001177645.1:p.Arg522=
NM_004945.3:c.1553G= NP_004936.2:p.Arg518=
NM_004945.4:c.1553G= NP_004936.2:p.Arg518=
ENST00000355667.10:c.1565G= ENSP00000347890.6:p.Arg522=
ENST00000355667.11:c.1565G= ENSP00000347890.6:p.Arg522=
ENST00000359692.10:c.1553G= ENSP00000352721.6:p.Arg518=
ENST00000389253.8:c.1565G= ENSP00000373905.3:p.Arg522=
ENST00000408974.8:c.1553G= ENSP00000386192.3:p.Arg518=
ENST00000585892.5:c.1565G= ENSP00000468734.1:p.Arg522=
ENST00000587830.2:c.839G= ENSP00000466603.2:p.Arg280=
ENST00000590787.1:n.3064G=
ENST00000590806.5:n.3753G=
ENST00000681972.1:n.996G=