Canonical Allele Identifier: CA8013183

Gene: PHKG2

Linked Data

• dbSNP Id: rs764834643
• ExAC: 16:30764762 A / G
• gnomAD v2: 16-30764762-A-G
• gnomAD v4: 16-30753441-A-G
• MyVariant Identifiers: chr16:g.30764762A>G (hg19) ; chr16:g.30753441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753441A>G , CM000678.2:g.30753441A>G	GRCh38
NC_000016.9:g.30764762A>G , CM000678.1:g.30764762A>G	GRCh37
NC_000016.8:g.30672263A>G	NCBI36
NG_016616.1:g.10143A>G
NG_016616.2:g.10143A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.440A>G MANE Select	ENSP00000455607.1:p.Asn147Ser
ENST00000328273.11:c.440A>G	ENSP00000329968.7:p.Asn147Ser
ENST00000424889.7:c.440A>G	ENSP00000388571.3:p.Asn147Ser
ENST00000561712.1:c.114A>G
ENST00000563588.5:c.440A>G	ENSP00000455607.1:p.Asn147Ser
ENST00000563607.1:c.*112A>G	ENSP00000454641.1:n.*112A>G
ENST00000563913.5:n.773A>G
ENST00000564838.5:n.814A>G
ENST00000565897.5:c.440A>G	ENSP00000457359.1:p.Asn147Ser
ENST00000565924.5:c.440A>G	ENSP00000455091.1:p.Asn147Ser
ENST00000569684.1:n.852A>G
NM_000294.2:c.440A>G	NP_000285.1:p.Asn147Ser
NM_001172432.1:c.440A>G	NP_001165903.1:p.Asn147Ser
NM_000294.3:c.440A>G MANE Select	NP_000285.1:p.Asn147Ser
NM_001172432.2:c.440A>G	NP_001165903.1:p.Asn147Ser