Canonical Allele Identifier: CA8013297
Community Standard Title: NM_000294.3(PHKG2):c.786C>T (p.Ser262=)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756505C>T , CM000678.2:g.30756505C>T GRCh38
NC_000016.9:g.30767826C>T , CM000678.1:g.30767826C>T GRCh37
NC_000016.8:g.30675327C>T NCBI36
NG_016616.1:g.13207C>T
NG_016616.2:g.13207C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.786C>T MANE Select NP_000285.1:p.Ser262=
ENST00000563588.6:c.786C>T MANE Select ENSP00000455607.1:p.Ser262=
NM_000294.2:c.786C>T NP_000285.1:p.Ser262=
NM_001172432.1:c.786C>T NP_001165903.1:p.Ser262=
NM_001172432.2:c.786C>T NP_001165903.1:p.Ser262=
ENST00000328273.11:c.798C>T ENSP00000329968.7:p.Ser266=
ENST00000424889.7:c.786C>T ENSP00000388571.3:p.Ser262=
ENST00000563588.5:c.786C>T ENSP00000455607.1:p.Ser262=
ENST00000563913.5:n.1119C>T
ENST00000564838.5:n.931-85C>T
ENST00000565897.5:c.786C>T ENSP00000457359.1:p.Ser262=