Canonical Allele Identifier: CA8013310
Gene: PHKG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201244
ClinVar RCV Id: RCV002654930
dbSNP Id: rs780446736
ExAC: 16:30767895 T / C
gnomAD v2: 16-30767895-T-C
gnomAD v3: 16-30756574-T-C
gnomAD v4: 16-30756574-T-C
MyVariant Identifiers: chr16:g.30767895T>C (hg19) chr16:g.30756574T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756574T>C , CM000678.2:g.30756574T>C GRCh38
NC_000016.9:g.30767895T>C , CM000678.1:g.30767895T>C GRCh37
NC_000016.8:g.30675396T>C NCBI36
NG_016616.1:g.13276T>C
NG_016616.2:g.13276T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.802-16T>C MANE Select ENSP00000455607.1:n.802-16T>C
ENST00000328273.11:c.814-16T>C ENSP00000329968.7:n.814-16T>C
ENST00000424889.7:c.802-16T>C ENSP00000388571.3:n.802-16T>C
ENST00000563588.5:c.802-16T>C ENSP00000455607.1:n.802-16T>C
ENST00000563913.5:n.1135-16T>C
ENST00000564838.5:n.931-16T>C
NM_000294.2:c.802-16T>C NP_000285.1:n.802-16T>C
NM_001172432.1:c.802-16T>C NP_001165903.1:n.802-16T>C
NM_000294.3:c.802-16T>C MANE Select NP_000285.1:n.802-16T>C
NM_001172432.2:c.802-16T>C NP_001165903.1:n.802-16T>C
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