Canonical Allele Identifier: CA280540672
Gene: PHKG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3212259
ClinVar RCV Id: RCV004501195
dbSNP Id: rs148776797
gnomAD v2: 16-30767818-C-T
gnomAD v3: 16-30756497-C-T
gnomAD v4: 16-30756497-C-T
MyVariant Identifiers: chr16:g.30767818C>T (hg19) chr16:g.30756497C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756497C>T , CM000678.2:g.30756497C>T GRCh38
NC_000016.9:g.30767818C>T , CM000678.1:g.30767818C>T GRCh37
NC_000016.8:g.30675319C>T NCBI36
NG_016616.1:g.13199C>T
NG_016616.2:g.13199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.778C>T MANE Select ENSP00000455607.1:p.Arg260Cys
ENST00000328273.11:c.790C>T ENSP00000329968.7:p.Arg264Cys
ENST00000424889.7:c.778C>T ENSP00000388571.3:p.Arg260Cys
ENST00000563588.5:c.778C>T ENSP00000455607.1:p.Arg260Cys
ENST00000563913.5:n.1111C>T
ENST00000564838.5:n.931-93C>T
ENST00000565897.5:c.778C>T ENSP00000457359.1:p.Arg260Cys
NM_000294.2:c.778C>T NP_000285.1:p.Arg260Cys
NM_001172432.1:c.778C>T NP_001165903.1:p.Arg260Cys
NM_000294.3:c.778C>T MANE Select NP_000285.1:p.Arg260Cys
NM_001172432.2:c.778C>T NP_001165903.1:p.Arg260Cys
Search 100 bp 5'
Search 100 bp 3'