Canonical Allele Identifier: CA8013192

Gene: PHKG2

Linked Data

• dbSNP Id: rs757490714
• ExAC: 16:30764819 A / C
• gnomAD v2: 16-30764819-A-C
• gnomAD v4: 16-30753498-A-C
• MyVariant Identifiers: chr16:g.30764819A>C (hg19) ; chr16:g.30753498A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753498A>C , CM000678.2:g.30753498A>C	GRCh38
NC_000016.9:g.30764819A>C , CM000678.1:g.30764819A>C	GRCh37
NC_000016.8:g.30672320A>C	NCBI36
NG_016616.1:g.10200A>C
NG_016616.2:g.10200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.497A>C MANE Select	ENSP00000455607.1:p.Gln166Pro
ENST00000328273.11:c.497A>C	ENSP00000329968.7:p.Gln166Pro
ENST00000424889.7:c.497A>C	ENSP00000388571.3:p.Gln166Pro
ENST00000561712.1:c.171A>C
ENST00000563588.5:c.497A>C	ENSP00000455607.1:p.Gln166Pro
ENST00000563607.1:c.*169A>C	ENSP00000454641.1:n.*169A>C
ENST00000563913.5:n.830A>C
ENST00000564838.5:n.871A>C
ENST00000565897.5:c.497A>C	ENSP00000457359.1:p.Gln166Pro
ENST00000565924.5:c.497A>C	ENSP00000455091.1:p.Gln166Pro
ENST00000569684.1:n.909A>C
NM_000294.2:c.497A>C	NP_000285.1:p.Gln166Pro
NM_001172432.1:c.497A>C	NP_001165903.1:p.Gln166Pro
NM_000294.3:c.497A>C MANE Select	NP_000285.1:p.Gln166Pro
NM_001172432.2:c.497A>C	NP_001165903.1:p.Gln166Pro