Canonical Allele Identifier: CA2216725253

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753236_30753240delinsCGGAA , CM000678.2:g.30753236_30753240delinsCGGAA	GRCh38
NC_000016.9:g.30764557_30764561delinsCGGAA , CM000678.1:g.30764557_30764561delinsCGGAA	GRCh37
NC_000016.8:g.30672058_30672062delinsCGGAA	NCBI36
NG_016616.1:g.9938_9942delinsCGGAA
NG_016616.2:g.9938_9942delinsCGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.331_335delinsCGGAA MANE Select	ENSP00000455607.1:p.Arg111=
ENST00000328273.11:c.331_335delinsCGGAA	ENSP00000329968.7:p.Arg111=
ENST00000424889.7:c.331_335delinsCGGAA	ENSP00000388571.3:p.Arg111=
ENST00000561712.1:c.5_9delinsCGGAA
ENST00000563588.5:c.331_335delinsCGGAA	ENSP00000455607.1:p.Arg111=
ENST00000563607.1:c.*3_*7delinsCGGAA	ENSP00000454641.1:n.*3_*7delinsCGGAA
ENST00000563913.5:n.664_668delinsCGGAA
ENST00000564838.5:n.705_709delinsCGGAA
ENST00000565897.5:c.331_335delinsCGGAA	ENSP00000457359.1:p.Arg111=
ENST00000565924.5:c.331_335delinsCGGAA	ENSP00000455091.1:p.Arg111=
ENST00000569684.1:n.743_747delinsCGGAA
NM_000294.2:c.331_335delinsCGGAA	NP_000285.1:p.Arg111=
NM_001172432.1:c.331_335delinsCGGAA	NP_001165903.1:p.Arg111=
NM_000294.3:c.331_335delinsCGGAA MANE Select	NP_000285.1:p.Arg111=
NM_001172432.2:c.331_335delinsCGGAA	NP_001165903.1:p.Arg111=