Canonical Allele Identifier: CA494684492

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2784234
• ClinVar RCV Id: RCV003626985
• dbSNP Id: rs1466881589
• gnomAD v3: 16-30753481-C-T
• gnomAD v4: 16-30753481-C-T
• MyVariant Identifiers: chr16:g.30764802C>T (hg19) ; chr16:g.30753481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753481C>T , CM000678.2:g.30753481C>T	GRCh38
NC_000016.9:g.30764802C>T , CM000678.1:g.30764802C>T	GRCh37
NC_000016.8:g.30672303C>T	NCBI36
NG_016616.1:g.10183C>T
NG_016616.2:g.10183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.480C>T MANE Select	ENSP00000455607.1:p.Leu160=
ENST00000328273.11:c.480C>T	ENSP00000329968.7:p.Leu160=
ENST00000424889.7:c.480C>T	ENSP00000388571.3:p.Leu160=
ENST00000561712.1:c.154C>T
ENST00000563588.5:c.480C>T	ENSP00000455607.1:p.Leu160=
ENST00000563607.1:c.*152C>T	ENSP00000454641.1:n.*152C>T
ENST00000563913.5:n.813C>T
ENST00000564838.5:n.854C>T
ENST00000565897.5:c.480C>T	ENSP00000457359.1:p.Leu160=
ENST00000565924.5:c.480C>T	ENSP00000455091.1:p.Leu160=
ENST00000569684.1:n.892C>T
NM_000294.2:c.480C>T	NP_000285.1:p.Leu160=
NM_001172432.1:c.480C>T	NP_001165903.1:p.Leu160=
NM_000294.3:c.480C>T MANE Select	NP_000285.1:p.Leu160=
NM_001172432.2:c.480C>T	NP_001165903.1:p.Leu160=