Canonical Allele Identifier: CA494912278
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767516C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756195C>T , CM000678.2:g.30756195C>T GRCh38
NC_000016.9:g.30767516C>T , CM000678.1:g.30767516C>T GRCh37
NC_000016.8:g.30675017C>T NCBI36
NG_016616.1:g.12897C>T
NG_016616.2:g.12897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.570C>T MANE Select ENSP00000455607.1:p.Thr190=
ENST00000328273.11:c.570C>T ENSP00000329968.7:p.Thr190=
ENST00000424889.7:c.570C>T ENSP00000388571.3:p.Thr190=
ENST00000563588.5:c.570C>T ENSP00000455607.1:p.Thr190=
ENST00000563913.5:n.903C>T
ENST00000564838.5:n.931-395C>T
ENST00000565897.5:c.570C>T ENSP00000457359.1:p.Thr190=
ENST00000565924.5:c.570C>T ENSP00000455091.1:p.Thr190=
ENST00000569684.1:n.982C>T
NM_000294.2:c.570C>T NP_000285.1:p.Thr190=
NM_001172432.1:c.570C>T NP_001165903.1:p.Thr190=
NM_000294.3:c.570C>T MANE Select NP_000285.1:p.Thr190=
NM_001172432.2:c.570C>T NP_001165903.1:p.Thr190=