Canonical Allele Identifier: CA494684242
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30764739A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753418A>G , CM000678.2:g.30753418A>G GRCh38
NC_000016.9:g.30764739A>G , CM000678.1:g.30764739A>G GRCh37
NC_000016.8:g.30672240A>G NCBI36
NG_016616.1:g.10120A>G
NG_016616.2:g.10120A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.417A>G MANE Select ENSP00000455607.1:p.Glu139=
ENST00000328273.11:c.417A>G ENSP00000329968.7:p.Glu139=
ENST00000424889.7:c.417A>G ENSP00000388571.3:p.Glu139=
ENST00000561712.1:c.91A>G
ENST00000563588.5:c.417A>G ENSP00000455607.1:p.Glu139=
ENST00000563607.1:c.*89A>G ENSP00000454641.1:n.*89A>G
ENST00000563913.5:n.750A>G
ENST00000564838.5:n.791A>G
ENST00000565897.5:c.417A>G ENSP00000457359.1:p.Glu139=
ENST00000565924.5:c.417A>G ENSP00000455091.1:p.Glu139=
ENST00000569684.1:n.829A>G
NM_000294.2:c.417A>G NP_000285.1:p.Glu139=
NM_001172432.1:c.417A>G NP_001165903.1:p.Glu139=
NM_000294.3:c.417A>G MANE Select NP_000285.1:p.Glu139=
NM_001172432.2:c.417A>G NP_001165903.1:p.Glu139=