Canonical Allele Identifier: CA494684328
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30764760C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753439C>G , CM000678.2:g.30753439C>G GRCh38
NC_000016.9:g.30764760C>G , CM000678.1:g.30764760C>G GRCh37
NC_000016.8:g.30672261C>G NCBI36
NG_016616.1:g.10141C>G
NG_016616.2:g.10141C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.438C>G MANE Select ENSP00000455607.1:p.Ala146=
ENST00000328273.11:c.438C>G ENSP00000329968.7:p.Ala146=
ENST00000424889.7:c.438C>G ENSP00000388571.3:p.Ala146=
ENST00000561712.1:c.112C>G
ENST00000563588.5:c.438C>G ENSP00000455607.1:p.Ala146=
ENST00000563607.1:c.*110C>G ENSP00000454641.1:n.*110C>G
ENST00000563913.5:n.771C>G
ENST00000564838.5:n.812C>G
ENST00000565897.5:c.438C>G ENSP00000457359.1:p.Ala146=
ENST00000565924.5:c.438C>G ENSP00000455091.1:p.Ala146=
ENST00000569684.1:n.850C>G
NM_000294.2:c.438C>G NP_000285.1:p.Ala146=
NM_001172432.1:c.438C>G NP_001165903.1:p.Ala146=
NM_000294.3:c.438C>G MANE Select NP_000285.1:p.Ala146=
NM_001172432.2:c.438C>G NP_001165903.1:p.Ala146=