Canonical Allele Identifier: CA395657136

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753538-A-T
• MyVariant Identifiers: chr16:g.30764859A>T (hg19) ; chr16:g.30753538A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753538A>T , CM000678.2:g.30753538A>T	GRCh38
NC_000016.9:g.30764859A>T , CM000678.1:g.30764859A>T	GRCh37
NC_000016.8:g.30672360A>T	NCBI36
NG_016616.1:g.10240A>T
NG_016616.2:g.10240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.537A>T MANE Select	ENSP00000455607.1:p.Glu179Asp
ENST00000328273.11:c.537A>T	ENSP00000329968.7:p.Glu179Asp
ENST00000424889.7:c.537A>T	ENSP00000388571.3:p.Glu179Asp
ENST00000561712.1:c.211A>T
ENST00000563588.5:c.537A>T	ENSP00000455607.1:p.Glu179Asp
ENST00000563607.1:c.*209A>T	ENSP00000454641.1:n.*209A>T
ENST00000563913.5:n.870A>T
ENST00000564838.5:n.911A>T
ENST00000565897.5:c.537A>T	ENSP00000457359.1:p.Glu179Asp
ENST00000565924.5:c.537A>T	ENSP00000455091.1:p.Glu179Asp
ENST00000569684.1:n.949A>T
NM_000294.2:c.537A>T	NP_000285.1:p.Glu179Asp
NM_001172432.1:c.537A>T	NP_001165903.1:p.Glu179Asp
NM_000294.3:c.537A>T MANE Select	NP_000285.1:p.Glu179Asp
NM_001172432.2:c.537A>T	NP_001165903.1:p.Glu179Asp