Canonical Allele Identifier: CA10472046
Community Standard Title: NM_001939.3(DRP2):c.287G>A (p.Arg96His)
Gene: DRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101237624G>A , CM000685.2:g.101237624G>A GRCh38
NC_000023.10:g.100492613G>A , CM000685.1:g.100492613G>A GRCh37
NC_000023.9:g.100379269G>A NCBI36
NG_016403.1:g.22681G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001939.3:c.287G>A MANE Select NP_001930.2:p.Arg96His
ENST00000395209.8:c.287G>A MANE Select ENSP00000378635.3:p.Arg96His
NM_001171184.1:c.53G>A NP_001164655.1:p.Arg18His
NM_001171184.2:c.53G>A NP_001164655.1:p.Arg18His
NM_001939.2:c.287G>A NP_001930.2:p.Arg96His
ENST00000372916.8:c.287G>A ENSP00000362007.4:p.Arg96His
ENST00000395209.7:c.287G>A ENSP00000378635.3:p.Arg96His
ENST00000402866.5:c.287G>A ENSP00000385038.1:p.Arg96His
ENST00000538510.1:c.287G>A ENSP00000441051.1:p.Arg96His
ENST00000541709.5:c.53G>A ENSP00000444752.1:p.Arg18His
XM_017029333.1:c.287G>A XP_016884822.1:p.Arg96His
XM_017029334.1:c.-673G>A XP_016884823.1:n.-673G>A