Canonical Allele Identifier: CA395658977

Gene: PHKG2

Linked Data

• dbSNP Id: rs980763024
• gnomAD v3: 16-30756480-C-G
• gnomAD v4: 16-30756480-C-G
• MyVariant Identifiers: chr16:g.30767801C>G (hg19) ; chr16:g.30756480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756480C>G , CM000678.2:g.30756480C>G	GRCh38
NC_000016.9:g.30767801C>G , CM000678.1:g.30767801C>G	GRCh37
NC_000016.8:g.30675302C>G	NCBI36
NG_016616.1:g.13182C>G
NG_016616.2:g.13182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.761C>G MANE Select	ENSP00000455607.1:p.Ser254Cys
ENST00000328273.11:c.773C>G	ENSP00000329968.7:p.Ser258Cys
ENST00000424889.7:c.761C>G	ENSP00000388571.3:p.Ser254Cys
ENST00000563588.5:c.761C>G	ENSP00000455607.1:p.Ser254Cys
ENST00000563913.5:n.1094C>G
ENST00000564838.5:n.931-110C>G
ENST00000565897.5:c.761C>G	ENSP00000457359.1:p.Ser254Cys
ENST00000565924.5:c.761C>G	ENSP00000455091.1:p.Ser254Cys
NM_000294.2:c.761C>G	NP_000285.1:p.Ser254Cys
NM_001172432.1:c.761C>G	NP_001165903.1:p.Ser254Cys
NM_000294.3:c.761C>G MANE Select	NP_000285.1:p.Ser254Cys
NM_001172432.2:c.761C>G	NP_001165903.1:p.Ser254Cys