Canonical Allele Identifier: CA8013201

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2529236
• ClinVar RCV Id: RCV003280610
• dbSNP Id: rs45612445
• ExAC: 16:30764851 C / G
• gnomAD v2: 16-30764851-C-G
• gnomAD v3: 16-30753530-C-G
• gnomAD v4: 16-30753530-C-G
• MyVariant Identifiers: chr16:g.30764851C>G (hg19) ; chr16:g.30753530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753530C>G , CM000678.2:g.30753530C>G	GRCh38
NC_000016.9:g.30764851C>G , CM000678.1:g.30764851C>G	GRCh37
NC_000016.8:g.30672352C>G	NCBI36
NG_016616.1:g.10232C>G
NG_016616.2:g.10232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.529C>G MANE Select	ENSP00000455607.1:p.His177Asp
ENST00000328273.11:c.529C>G	ENSP00000329968.7:p.His177Asp
ENST00000424889.7:c.529C>G	ENSP00000388571.3:p.His177Asp
ENST00000561712.1:c.203C>G
ENST00000563588.5:c.529C>G	ENSP00000455607.1:p.His177Asp
ENST00000563607.1:c.*201C>G	ENSP00000454641.1:n.*201C>G
ENST00000563913.5:n.862C>G
ENST00000564838.5:n.903C>G
ENST00000565897.5:c.529C>G	ENSP00000457359.1:p.His177Asp
ENST00000565924.5:c.529C>G	ENSP00000455091.1:p.His177Asp
ENST00000569684.1:n.941C>G
NM_000294.2:c.529C>G	NP_000285.1:p.His177Asp
NM_001172432.1:c.529C>G	NP_001165903.1:p.His177Asp
NM_000294.3:c.529C>G MANE Select	NP_000285.1:p.His177Asp
NM_001172432.2:c.529C>G	NP_001165903.1:p.His177Asp