Canonical Allele Identifier: CA494912498

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2979560
• ClinVar RCV Id: RCV003834670
• MyVariant Identifiers: chr16:g.30767745C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756424C>T , CM000678.2:g.30756424C>T	GRCh38
NC_000016.9:g.30767745C>T , CM000678.1:g.30767745C>T	GRCh37
NC_000016.8:g.30675246C>T	NCBI36
NG_016616.1:g.13126C>T
NG_016616.2:g.13126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.705C>T MANE Select	ENSP00000455607.1:p.His235=
ENST00000328273.11:c.717C>T	ENSP00000329968.7:p.His239=
ENST00000424889.7:c.705C>T	ENSP00000388571.3:p.His235=
ENST00000563588.5:c.705C>T	ENSP00000455607.1:p.His235=
ENST00000563913.5:n.1038C>T
ENST00000564838.5:n.931-166C>T
ENST00000565897.5:c.705C>T	ENSP00000457359.1:p.His235=
ENST00000565924.5:c.705C>T	ENSP00000455091.1:p.His235=
ENST00000569684.1:n.1129C>T
NM_000294.2:c.705C>T	NP_000285.1:p.His235=
NM_001172432.1:c.705C>T	NP_001165903.1:p.His235=
NM_000294.3:c.705C>T MANE Select	NP_000285.1:p.His235=
NM_001172432.2:c.705C>T	NP_001165903.1:p.His235=