Canonical Allele Identifier: CA395656101
Gene: PHKG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753398A>G , CM000678.2:g.30753398A>G GRCh38
NC_000016.9:g.30764719A>G , CM000678.1:g.30764719A>G GRCh37
NC_000016.8:g.30672220A>G NCBI36
NG_016616.1:g.10100A>G
NG_016616.2:g.10100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.397A>G MANE Select ENSP00000455607.1:p.Ile133Val
ENST00000328273.11:c.397A>G ENSP00000329968.7:p.Ile133Val
ENST00000424889.7:c.397A>G ENSP00000388571.3:p.Ile133Val
ENST00000561712.1:c.71A>G
ENST00000563588.5:c.397A>G ENSP00000455607.1:p.Ile133Val
ENST00000563607.1:c.*69A>G ENSP00000454641.1:n.*69A>G
ENST00000563913.5:n.730A>G
ENST00000564838.5:n.771A>G
ENST00000565897.5:c.397A>G ENSP00000457359.1:p.Ile133Val
ENST00000565924.5:c.397A>G ENSP00000455091.1:p.Ile133Val
ENST00000569684.1:n.809A>G
NM_000294.2:c.397A>G NP_000285.1:p.Ile133Val
NM_001172432.1:c.397A>G NP_001165903.1:p.Ile133Val
NM_000294.3:c.397A>G MANE Select NP_000285.1:p.Ile133Val
NM_001172432.2:c.397A>G NP_001165903.1:p.Ile133Val