Canonical Allele Identifier: CA8013193

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 1459077
• ClinVar RCV Id: RCV001958829
• dbSNP Id: rs778952896
• ExAC: 16:30764824 C / T
• gnomAD v2: 16-30764824-C-T
• gnomAD v3: 16-30753503-C-T
• gnomAD v4: 16-30753503-C-T
• MyVariant Identifiers: chr16:g.30764824C>T (hg19) ; chr16:g.30753503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753503C>T , CM000678.2:g.30753503C>T	GRCh38
NC_000016.9:g.30764824C>T , CM000678.1:g.30764824C>T	GRCh37
NC_000016.8:g.30672325C>T	NCBI36
NG_016616.1:g.10205C>T
NG_016616.2:g.10205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.502C>T MANE Select	ENSP00000455607.1:p.Arg168Ter
ENST00000328273.11:c.502C>T	ENSP00000329968.7:p.Arg168Ter
ENST00000424889.7:c.502C>T	ENSP00000388571.3:p.Arg168Ter
ENST00000561712.1:c.176C>T
ENST00000563588.5:c.502C>T	ENSP00000455607.1:p.Arg168Ter
ENST00000563607.1:c.*174C>T	ENSP00000454641.1:n.*174C>T
ENST00000563913.5:n.835C>T
ENST00000564838.5:n.876C>T
ENST00000565897.5:c.502C>T	ENSP00000457359.1:p.Arg168Ter
ENST00000565924.5:c.502C>T	ENSP00000455091.1:p.Arg168Ter
ENST00000569684.1:n.914C>T
NM_000294.2:c.502C>T	NP_000285.1:p.Arg168Ter
NM_001172432.1:c.502C>T	NP_001165903.1:p.Arg168Ter
NM_000294.3:c.502C>T MANE Select	NP_000285.1:p.Arg168Ter
NM_001172432.2:c.502C>T	NP_001165903.1:p.Arg168Ter