Canonical Allele Identifier: CA395658740

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 3041477
• ClinVar RCV Id: RCV003917315 ; RCV004546830
• dbSNP Id: rs2053427702
• gnomAD v3: 16-30756417-T-C
• gnomAD v4: 16-30756417-T-C
• MyVariant Identifiers: chr16:g.30767738T>C (hg19) ; chr16:g.30756417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756417T>C , CM000678.2:g.30756417T>C	GRCh38
NC_000016.9:g.30767738T>C , CM000678.1:g.30767738T>C	GRCh37
NC_000016.8:g.30675239T>C	NCBI36
NG_016616.1:g.13119T>C
NG_016616.2:g.13119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.698T>C MANE Select	ENSP00000455607.1:p.Phe233Ser
ENST00000328273.11:c.710T>C	ENSP00000329968.7:p.Phe237Ser
ENST00000424889.7:c.698T>C	ENSP00000388571.3:p.Phe233Ser
ENST00000563588.5:c.698T>C	ENSP00000455607.1:p.Phe233Ser
ENST00000563913.5:n.1031T>C
ENST00000564838.5:n.931-173T>C
ENST00000565897.5:c.698T>C	ENSP00000457359.1:p.Phe233Ser
ENST00000565924.5:c.698T>C	ENSP00000455091.1:p.Phe233Ser
ENST00000569684.1:n.1122T>C
NM_000294.2:c.698T>C	NP_000285.1:p.Phe233Ser
NM_001172432.1:c.698T>C	NP_001165903.1:p.Phe233Ser
NM_000294.3:c.698T>C MANE Select	NP_000285.1:p.Phe233Ser
NM_001172432.2:c.698T>C	NP_001165903.1:p.Phe233Ser