Canonical Allele Identifier: CA2216725794
Community Standard Title: NM_000294.3(PHKG2):c.433C= (p.His145=)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753434C= , CM000678.2:g.30753434C= GRCh38
NC_000016.9:g.30764755C= , CM000678.1:g.30764755C= GRCh37
NC_000016.8:g.30672256C= NCBI36
NG_016616.1:g.10136C=
NG_016616.2:g.10136C=

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.433C= MANE Select NP_000285.1:p.His145=
ENST00000563588.6:c.433C= MANE Select ENSP00000455607.1:p.His145=
NM_000294.2:c.433C= NP_000285.1:p.His145=
NM_001172432.1:c.433C= NP_001165903.1:p.His145=
NM_001172432.2:c.433C= NP_001165903.1:p.His145=
ENST00000328273.11:c.433C= ENSP00000329968.7:p.His145=
ENST00000424889.7:c.433C= ENSP00000388571.3:p.His145=
ENST00000561712.1:c.107C=
ENST00000563588.5:c.433C= ENSP00000455607.1:p.His145=
ENST00000563607.1:c.*105C= ENSP00000454641.1:n.*105C=
ENST00000563913.5:n.766C=
ENST00000564838.5:n.807C=
ENST00000565897.5:c.433C= ENSP00000457359.1:p.His145=
ENST00000565924.5:c.433C= ENSP00000455091.1:p.His145=
ENST00000569684.1:n.845C=