Canonical Allele Identifier: CA494683634
Community Standard Title: NM_000294.3(PHKG2):c.72C>T (p.Tyr24=)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30748892C>T , CM000678.2:g.30748892C>T GRCh38
NC_000016.9:g.30760213C>T , CM000678.1:g.30760213C>T GRCh37
NC_000016.8:g.30667714C>T NCBI36
NG_016616.1:g.5594C>T
NG_016616.2:g.5594C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.72C>T MANE Select NP_000285.1:p.Tyr24=
ENST00000563588.6:c.72C>T MANE Select ENSP00000455607.1:p.Tyr24=
NM_000294.2:c.72C>T NP_000285.1:p.Tyr24=
NM_001172432.1:c.72C>T NP_001165903.1:p.Tyr24=
NM_001172432.2:c.72C>T NP_001165903.1:p.Tyr24=
ENST00000328273.11:c.72C>T ENSP00000329968.7:p.Tyr24=
ENST00000424889.7:c.72C>T ENSP00000388571.3:p.Tyr24=
ENST00000563588.5:c.72C>T ENSP00000455607.1:p.Tyr24=
ENST00000563607.1:c.72C>T ENSP00000454641.1:p.Tyr24=
ENST00000563913.5:n.138C>T
ENST00000564838.5:n.179C>T
ENST00000565897.5:c.72C>T ENSP00000457359.1:p.Tyr24=
ENST00000565924.5:c.72C>T ENSP00000455091.1:p.Tyr24=
ENST00000569762.1:n.49C>T