Canonical Allele Identifier: CA494684111
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30764586A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753265A>C , CM000678.2:g.30753265A>C GRCh38
NC_000016.9:g.30764586A>C , CM000678.1:g.30764586A>C GRCh37
NC_000016.8:g.30672087A>C NCBI36
NG_016616.1:g.9967A>C
NG_016616.2:g.9967A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.360A>C MANE Select ENSP00000455607.1:p.Thr120=
ENST00000328273.11:c.360A>C ENSP00000329968.7:p.Thr120=
ENST00000424889.7:c.360A>C ENSP00000388571.3:p.Thr120=
ENST00000561712.1:c.34A>C
ENST00000563588.5:c.360A>C ENSP00000455607.1:p.Thr120=
ENST00000563607.1:c.*32A>C ENSP00000454641.1:n.*32A>C
ENST00000563913.5:n.693A>C
ENST00000564838.5:n.734A>C
ENST00000565897.5:c.360A>C ENSP00000457359.1:p.Thr120=
ENST00000565924.5:c.360A>C ENSP00000455091.1:p.Thr120=
ENST00000569684.1:n.772A>C
NM_000294.2:c.360A>C NP_000285.1:p.Thr120=
NM_001172432.1:c.360A>C NP_001165903.1:p.Thr120=
NM_000294.3:c.360A>C MANE Select NP_000285.1:p.Thr120=
NM_001172432.2:c.360A>C NP_001165903.1:p.Thr120=