Canonical Allele Identifier: CA2216731642
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756400G= , CM000678.2:g.30756400G= GRCh38
NC_000016.9:g.30767721G= , CM000678.1:g.30767721G= GRCh37
NC_000016.8:g.30675222G= NCBI36
NG_016616.1:g.13102G=
NG_016616.2:g.13102G=

Transcript Alleles

HGVS Amino-acid change
ENST00000563588.6:c.681G= MANE Select ENSP00000455607.1:p.Leu227=
ENST00000328273.11:c.693G= ENSP00000329968.7:p.Leu231=
ENST00000424889.7:c.681G= ENSP00000388571.3:p.Leu227=
ENST00000563588.5:c.681G= ENSP00000455607.1:p.Leu227=
ENST00000563913.5:n.1014G=
ENST00000564838.5:n.931-190G=
ENST00000565897.5:c.681G= ENSP00000457359.1:p.Leu227=
ENST00000565924.5:c.681G= ENSP00000455091.1:p.Leu227=
ENST00000569684.1:n.1105G=
NM_000294.2:c.681G= NP_000285.1:p.Leu227=
NM_001172432.1:c.681G= NP_001165903.1:p.Leu227=
NM_000294.3:c.681G= MANE Select NP_000285.1:p.Leu227=
NM_001172432.2:c.681G= NP_001165903.1:p.Leu227=