Canonical Allele Identifier: CA10472267
Community Standard Title: NM_001939.3(DRP2):c.1454+5G>A
Gene: DRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101248295G>A , CM000685.2:g.101248295G>A GRCh38
NC_000023.10:g.100503284G>A , CM000685.1:g.100503284G>A GRCh37
NC_000023.9:g.100389940G>A NCBI36
NG_016403.1:g.33352G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001939.3:c.1454+5G>A MANE Select NP_001930.2:n.1454+5G>A
ENST00000395209.8:c.1454+5G>A MANE Select ENSP00000378635.3:n.1454+5G>A
NM_001171184.1:c.1220+5G>A NP_001164655.1:n.1220+5G>A
NM_001171184.2:c.1220+5G>A NP_001164655.1:n.1220+5G>A
NM_001939.2:c.1454+5G>A NP_001930.2:n.1454+5G>A
ENST00000372916.8:c.*508+5G>A ENSP00000362007.4:n.*508+5G>A
ENST00000395209.7:c.1454+5G>A ENSP00000378635.3:n.1454+5G>A
ENST00000402866.5:c.1454+5G>A ENSP00000385038.1:n.1454+5G>A
ENST00000538510.1:c.1454+5G>A ENSP00000441051.1:n.1454+5G>A
ENST00000541709.5:c.1220+5G>A ENSP00000444752.1:n.1220+5G>A
XM_006724628.2:c.416+5G>A XP_006724691.1:n.416+5G>A
XM_017029333.1:c.1379+5G>A XP_016884822.1:n.1379+5G>A
XM_017029334.1:c.416+5G>A XP_016884823.1:n.416+5G>A