Canonical Allele Identifier: CA333099692
Community Standard Title: NM_001939.3(DRP2):c.2750-154A>G
Gene: DRP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101260343A>G , CM000685.2:g.101260343A>G GRCh38
NC_000023.10:g.100515332A>G , CM000685.1:g.100515332A>G GRCh37
NC_000023.9:g.100401988A>G NCBI36
NG_016403.1:g.45400A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001939.3:c.2750-154A>G MANE Select NP_001930.2:n.2750-154A>G
ENST00000395209.8:c.2750-154A>G MANE Select ENSP00000378635.3:n.2750-154A>G
NM_001171184.1:c.2516-154A>G NP_001164655.1:n.2516-154A>G
NM_001171184.2:c.2516-154A>G NP_001164655.1:n.2516-154A>G
NM_001939.2:c.2750-154A>G NP_001930.2:n.2750-154A>G
ENST00000395209.7:c.2750-154A>G ENSP00000378635.3:n.2750-154A>G
ENST00000402866.5:c.2750-154A>G ENSP00000385038.1:n.2750-154A>G
ENST00000538510.1:c.2750-154A>G ENSP00000441051.1:n.2750-154A>G
ENST00000541709.5:c.2516-154A>G ENSP00000444752.1:n.2516-154A>G
XM_006724628.2:c.1712-154A>G XP_006724691.1:n.1712-154A>G
XM_017029333.1:c.2675-154A>G XP_016884822.1:n.2675-154A>G
XM_017029334.1:c.1712-154A>G XP_016884823.1:n.1712-154A>G