Canonical Allele Identifier: CA395653358
Community Standard Title: NM_000294.3(PHKG2):c.173C>T (p.Thr58Ile)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751183C>T , CM000678.2:g.30751183C>T GRCh38
NC_000016.9:g.30762504C>T , CM000678.1:g.30762504C>T GRCh37
NC_000016.8:g.30670005C>T NCBI36
NG_016616.1:g.7885C>T
NG_016616.2:g.7885C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.173C>T MANE Select NP_000285.1:p.Thr58Ile
ENST00000563588.6:c.173C>T MANE Select ENSP00000455607.1:p.Thr58Ile
NM_000294.2:c.173C>T NP_000285.1:p.Thr58Ile
NM_001172432.1:c.173C>T NP_001165903.1:p.Thr58Ile
NM_001172432.2:c.173C>T NP_001165903.1:p.Thr58Ile
ENST00000328273.11:c.173C>T ENSP00000329968.7:p.Thr58Ile
ENST00000424889.7:c.173C>T ENSP00000388571.3:p.Thr58Ile
ENST00000563588.5:c.173C>T ENSP00000455607.1:p.Thr58Ile
ENST00000563607.1:c.173C>T ENSP00000454641.1:p.Thr58Ile
ENST00000563913.5:n.239C>T
ENST00000564838.5:n.280C>T
ENST00000565897.5:c.173C>T ENSP00000457359.1:p.Thr58Ile
ENST00000565924.5:c.173C>T ENSP00000455091.1:p.Thr58Ile
ENST00000569762.1:n.150C>T