Canonical Allele Identifier: CA8013138

Gene: PHKG2

Linked Data

• dbSNP Id: rs767112052
• ExAC: 16:30764574 T / A
• gnomAD v4: 16-30753253-T-A
• MyVariant Identifiers: chr16:g.30764574T>A (hg19) ; chr16:g.30753253T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753253T>A , CM000678.2:g.30753253T>A	GRCh38
NC_000016.9:g.30764574T>A , CM000678.1:g.30764574T>A	GRCh37
NC_000016.8:g.30672075T>A	NCBI36
NG_016616.1:g.9955T>A
NG_016616.2:g.9955T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.348T>A MANE Select	ENSP00000455607.1:p.Phe116Leu
ENST00000328273.11:c.348T>A	ENSP00000329968.7:p.Phe116Leu
ENST00000424889.7:c.348T>A	ENSP00000388571.3:p.Phe116Leu
ENST00000561712.1:c.22T>A
ENST00000563588.5:c.348T>A	ENSP00000455607.1:p.Phe116Leu
ENST00000563607.1:c.*20T>A	ENSP00000454641.1:n.*20T>A
ENST00000563913.5:n.681T>A
ENST00000564838.5:n.722T>A
ENST00000565897.5:c.348T>A	ENSP00000457359.1:p.Phe116Leu
ENST00000565924.5:c.348T>A	ENSP00000455091.1:p.Phe116Leu
ENST00000569684.1:n.760T>A
NM_000294.2:c.348T>A	NP_000285.1:p.Phe116Leu
NM_001172432.1:c.348T>A	NP_001165903.1:p.Phe116Leu
NM_000294.3:c.348T>A MANE Select	NP_000285.1:p.Phe116Leu
NM_001172432.2:c.348T>A	NP_001165903.1:p.Phe116Leu