Canonical Allele Identifier: CA8013284

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2854909
• ClinVar RCV Id: RCV003628596
• dbSNP Id: rs778270637
• ExAC: 16:30767796 C / T
• gnomAD v2: 16-30767796-C-T
• gnomAD v4: 16-30756475-C-T
• MyVariant Identifiers: chr16:g.30767796C>T (hg19) ; chr16:g.30756475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756475C>T , CM000678.2:g.30756475C>T	GRCh38
NC_000016.9:g.30767796C>T , CM000678.1:g.30767796C>T	GRCh37
NC_000016.8:g.30675297C>T	NCBI36
NG_016616.1:g.13177C>T
NG_016616.2:g.13177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.756C>T MANE Select	ENSP00000455607.1:p.Phe252=
ENST00000328273.11:c.768C>T	ENSP00000329968.7:p.Phe256=
ENST00000424889.7:c.756C>T	ENSP00000388571.3:p.Phe252=
ENST00000563588.5:c.756C>T	ENSP00000455607.1:p.Phe252=
ENST00000563913.5:n.1089C>T
ENST00000564838.5:n.931-115C>T
ENST00000565897.5:c.756C>T	ENSP00000457359.1:p.Phe252=
ENST00000565924.5:c.756C>T	ENSP00000455091.1:p.Phe252=
NM_000294.2:c.756C>T	NP_000285.1:p.Phe252=
NM_001172432.1:c.756C>T	NP_001165903.1:p.Phe252=
NM_000294.3:c.756C>T MANE Select	NP_000285.1:p.Phe252=
NM_001172432.2:c.756C>T	NP_001165903.1:p.Phe252=