Canonical Allele Identifier: CA8013197

Gene: PHKG2

Linked Data

• dbSNP Id: rs779998350
• ExAC: 16:30764839 G / T
• gnomAD v2: 16-30764839-G-T
• gnomAD v4: 16-30753518-G-T
• MyVariant Identifiers: chr16:g.30764839G>T (hg19) ; chr16:g.30753518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753518G>T , CM000678.2:g.30753518G>T	GRCh38
NC_000016.9:g.30764839G>T , CM000678.1:g.30764839G>T	GRCh37
NC_000016.8:g.30672340G>T	NCBI36
NG_016616.1:g.10220G>T
NG_016616.2:g.10220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.517G>T MANE Select	ENSP00000455607.1:p.Gly173Trp
ENST00000328273.11:c.517G>T	ENSP00000329968.7:p.Gly173Trp
ENST00000424889.7:c.517G>T	ENSP00000388571.3:p.Gly173Trp
ENST00000561712.1:c.191G>T
ENST00000563588.5:c.517G>T	ENSP00000455607.1:p.Gly173Trp
ENST00000563607.1:c.*189G>T	ENSP00000454641.1:n.*189G>T
ENST00000563913.5:n.850G>T
ENST00000564838.5:n.891G>T
ENST00000565897.5:c.517G>T	ENSP00000457359.1:p.Gly173Trp
ENST00000565924.5:c.517G>T	ENSP00000455091.1:p.Gly173Trp
ENST00000569684.1:n.929G>T
NM_000294.2:c.517G>T	NP_000285.1:p.Gly173Trp
NM_001172432.1:c.517G>T	NP_001165903.1:p.Gly173Trp
NM_000294.3:c.517G>T MANE Select	NP_000285.1:p.Gly173Trp
NM_001172432.2:c.517G>T	NP_001165903.1:p.Gly173Trp