Canonical Allele Identifier: CA494684122

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30764598C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753277C>T , CM000678.2:g.30753277C>T	GRCh38
NC_000016.9:g.30764598C>T , CM000678.1:g.30764598C>T	GRCh37
NC_000016.8:g.30672099C>T	NCBI36
NG_016616.1:g.9979C>T
NG_016616.2:g.9979C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.372C>T MANE Select	ENSP00000455607.1:p.Ala124=
ENST00000328273.11:c.372C>T	ENSP00000329968.7:p.Ala124=
ENST00000424889.7:c.372C>T	ENSP00000388571.3:p.Ala124=
ENST00000561712.1:c.46C>T
ENST00000563588.5:c.372C>T	ENSP00000455607.1:p.Ala124=
ENST00000563607.1:c.*44C>T	ENSP00000454641.1:n.*44C>T
ENST00000563913.5:n.705C>T
ENST00000564838.5:n.746C>T
ENST00000565897.5:c.372C>T	ENSP00000457359.1:p.Ala124=
ENST00000565924.5:c.372C>T	ENSP00000455091.1:p.Ala124=
ENST00000569684.1:n.784C>T
NM_000294.2:c.372C>T	NP_000285.1:p.Ala124=
NM_001172432.1:c.372C>T	NP_001165903.1:p.Ala124=
NM_000294.3:c.372C>T MANE Select	NP_000285.1:p.Ala124=
NM_001172432.2:c.372C>T	NP_001165903.1:p.Ala124=