Canonical Allele Identifier: CA395655806

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753269-A-G
• MyVariant Identifiers: chr16:g.30764590A>G (hg19) ; chr16:g.30753269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753269A>G , CM000678.2:g.30753269A>G	GRCh38
NC_000016.9:g.30764590A>G , CM000678.1:g.30764590A>G	GRCh37
NC_000016.8:g.30672091A>G	NCBI36
NG_016616.1:g.9971A>G
NG_016616.2:g.9971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.364A>G MANE Select	ENSP00000455607.1:p.Lys122Glu
ENST00000328273.11:c.364A>G	ENSP00000329968.7:p.Lys122Glu
ENST00000424889.7:c.364A>G	ENSP00000388571.3:p.Lys122Glu
ENST00000561712.1:c.38A>G
ENST00000563588.5:c.364A>G	ENSP00000455607.1:p.Lys122Glu
ENST00000563607.1:c.*36A>G	ENSP00000454641.1:n.*36A>G
ENST00000563913.5:n.697A>G
ENST00000564838.5:n.738A>G
ENST00000565897.5:c.364A>G	ENSP00000457359.1:p.Lys122Glu
ENST00000565924.5:c.364A>G	ENSP00000455091.1:p.Lys122Glu
ENST00000569684.1:n.776A>G
NM_000294.2:c.364A>G	NP_000285.1:p.Lys122Glu
NM_001172432.1:c.364A>G	NP_001165903.1:p.Lys122Glu
NM_000294.3:c.364A>G MANE Select	NP_000285.1:p.Lys122Glu
NM_001172432.2:c.364A>G	NP_001165903.1:p.Lys122Glu