Canonical Allele Identifier: CA416177043
Gene: PLEKHM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15729146C>A , CM000663.2:g.15729146C>A GRCh38
NC_000001.10:g.16055641C>A , CM000663.1:g.16055641C>A GRCh37
NC_000001.9:g.15928228C>A NCBI36
NG_053033.1:g.52641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375799.8:c.2031C>A MANE Select ENSP00000364956.3:p.Arg677=
ENST00000642363.1:c.1908C>A ENSP00000494591.1:p.Arg636=
ENST00000375793.2:c.1971C>A ENSP00000364950.2:p.Arg657=
ENST00000375799.7:c.2031C>A ENSP00000364956.3:p.Arg677=
NM_015164.2:c.2031C>A NP_055979.2:p.Arg677=
XM_005245790.2:c.1971C>A XP_005245847.1:p.Arg657=
XM_005245791.3:c.1422C>A XP_005245848.1:p.Arg474=
XR_946590.1:n.2323C>A
NM_015164.3:c.2031C>A NP_055979.2:p.Arg677=
XM_005245790.4:c.1971C>A XP_005245847.1:p.Arg657=
XM_005245791.4:c.1422C>A XP_005245848.1:p.Arg474=
XM_017000757.1:c.2070C>A XP_016856246.1:p.Arg690=
XM_017000758.1:c.2010C>A XP_016856247.1:p.Arg670=
NM_015164.4:c.2031C>A MANE Select NP_055979.2:p.Arg677=