Canonical Allele Identifier: CA494683706
Community Standard Title: NM_000294.3(PHKG2):c.177T>A (p.Ala59=)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751187T>A , CM000678.2:g.30751187T>A GRCh38
NC_000016.9:g.30762508T>A , CM000678.1:g.30762508T>A GRCh37
NC_000016.8:g.30670009T>A NCBI36
NG_016616.1:g.7889T>A
NG_016616.2:g.7889T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.177T>A MANE Select NP_000285.1:p.Ala59=
ENST00000563588.6:c.177T>A MANE Select ENSP00000455607.1:p.Ala59=
NM_000294.2:c.177T>A NP_000285.1:p.Ala59=
NM_001172432.1:c.177T>A NP_001165903.1:p.Ala59=
NM_001172432.2:c.177T>A NP_001165903.1:p.Ala59=
ENST00000328273.11:c.177T>A ENSP00000329968.7:p.Ala59=
ENST00000424889.7:c.177T>A ENSP00000388571.3:p.Ala59=
ENST00000563588.5:c.177T>A ENSP00000455607.1:p.Ala59=
ENST00000563607.1:c.177T>A ENSP00000454641.1:p.Ala59=
ENST00000563913.5:n.243T>A
ENST00000564838.5:n.284T>A
ENST00000565897.5:c.177T>A ENSP00000457359.1:p.Ala59=
ENST00000565924.5:c.177T>A ENSP00000455091.1:p.Ala59=
ENST00000569762.1:n.154T>A