Canonical Allele Identifier: CA8013342
Gene: PHKG2 HGNC NCBI
COSMIC:
COSM703248
MyVariant.info:
GRCh38 chr16:g.30756714G>A
GRCh37 chr16:g.30768035G>A
Revel Score:
ENST00000328273 0.135
ENST00000424889 0.135
gnomAD v2:
16:30768035 G / A
gnomAD v3:
16:30756714 G / A
gnomAD v4:
chr16-30756714-G-A
Joint Max Group AF 0.00009057 (NFE)
Genomes Max Group AF 0.00006805 (NFE)
Exomes Max Group AF 0.00008851 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756714G>A , CM000678.2:g.30756714G>A GRCh38
NC_000016.9:g.30768035G>A , CM000678.1:g.30768035G>A GRCh37
NC_000016.8:g.30675536G>A NCBI36
NG_016616.1:g.13416G>A
NG_016616.2:g.13416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.926G>A MANE Select ENSP00000455607.1:p.Arg309Gln
ENST00000328273.11:c.938G>A ENSP00000329968.7:p.Arg313Gln
ENST00000424889.7:c.926G>A ENSP00000388571.3:p.Arg309Gln
ENST00000563588.5:c.926G>A ENSP00000455607.1:p.Arg309Gln
ENST00000563913.5:n.1259G>A
ENST00000564838.5:n.1055G>A
NM_000294.2:c.926G>A NP_000285.1:p.Arg309Gln
NM_001172432.1:c.926G>A NP_001165903.1:p.Arg309Gln
NM_000294.3:c.926G>A MANE Select NP_000285.1:p.Arg309Gln
NM_001172432.2:c.926G>A NP_001165903.1:p.Arg309Gln
Search 100 bp 5'
Search 100 bp 3'