Canonical Allele Identifier: CA494684116

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2699245
• ClinVar RCV Id: RCV003515345
• dbSNP Id: rs1160724733
• gnomAD v2: 16-30764592-G-A
• gnomAD v4: 16-30753271-G-A
• MyVariant Identifiers: chr16:g.30764592G>A (hg19) ; chr16:g.30753271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753271G>A , CM000678.2:g.30753271G>A	GRCh38
NC_000016.9:g.30764592G>A , CM000678.1:g.30764592G>A	GRCh37
NC_000016.8:g.30672093G>A	NCBI36
NG_016616.1:g.9973G>A
NG_016616.2:g.9973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.366G>A MANE Select	ENSP00000455607.1:p.Lys122=
ENST00000328273.11:c.366G>A	ENSP00000329968.7:p.Lys122=
ENST00000424889.7:c.366G>A	ENSP00000388571.3:p.Lys122=
ENST00000561712.1:c.40G>A
ENST00000563588.5:c.366G>A	ENSP00000455607.1:p.Lys122=
ENST00000563607.1:c.*38G>A	ENSP00000454641.1:n.*38G>A
ENST00000563913.5:n.699G>A
ENST00000564838.5:n.740G>A
ENST00000565897.5:c.366G>A	ENSP00000457359.1:p.Lys122=
ENST00000565924.5:c.366G>A	ENSP00000455091.1:p.Lys122=
ENST00000569684.1:n.778G>A
NM_000294.2:c.366G>A	NP_000285.1:p.Lys122=
NM_001172432.1:c.366G>A	NP_001165903.1:p.Lys122=
NM_000294.3:c.366G>A MANE Select	NP_000285.1:p.Lys122=
NM_001172432.2:c.366G>A	NP_001165903.1:p.Lys122=