Canonical Allele Identifier: CA395653371
Community Standard Title: NM_000294.3(PHKG2):c.176C>G (p.Ala59Gly)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751186C>G , CM000678.2:g.30751186C>G GRCh38
NC_000016.9:g.30762507C>G , CM000678.1:g.30762507C>G GRCh37
NC_000016.8:g.30670008C>G NCBI36
NG_016616.1:g.7888C>G
NG_016616.2:g.7888C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.176C>G MANE Select NP_000285.1:p.Ala59Gly
ENST00000563588.6:c.176C>G MANE Select ENSP00000455607.1:p.Ala59Gly
NM_000294.2:c.176C>G NP_000285.1:p.Ala59Gly
NM_001172432.1:c.176C>G NP_001165903.1:p.Ala59Gly
NM_001172432.2:c.176C>G NP_001165903.1:p.Ala59Gly
ENST00000328273.11:c.176C>G ENSP00000329968.7:p.Ala59Gly
ENST00000424889.7:c.176C>G ENSP00000388571.3:p.Ala59Gly
ENST00000563588.5:c.176C>G ENSP00000455607.1:p.Ala59Gly
ENST00000563607.1:c.176C>G ENSP00000454641.1:p.Ala59Gly
ENST00000563913.5:n.242C>G
ENST00000564838.5:n.283C>G
ENST00000565897.5:c.176C>G ENSP00000457359.1:p.Ala59Gly
ENST00000565924.5:c.176C>G ENSP00000455091.1:p.Ala59Gly
ENST00000569762.1:n.153C>G