Canonical Allele Identifier: CA494912414
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767724T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756403T>G , CM000678.2:g.30756403T>G GRCh38
NC_000016.9:g.30767724T>G , CM000678.1:g.30767724T>G GRCh37
NC_000016.8:g.30675225T>G NCBI36
NG_016616.1:g.13105T>G
NG_016616.2:g.13105T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000563588.6:c.684T>G MANE Select ENSP00000455607.1:p.Ala228=
ENST00000328273.11:c.696T>G ENSP00000329968.7:p.Ala232=
ENST00000424889.7:c.684T>G ENSP00000388571.3:p.Ala228=
ENST00000563588.5:c.684T>G ENSP00000455607.1:p.Ala228=
ENST00000563913.5:n.1017T>G
ENST00000564838.5:n.931-187T>G
ENST00000565897.5:c.684T>G ENSP00000457359.1:p.Ala228=
ENST00000565924.5:c.684T>G ENSP00000455091.1:p.Ala228=
ENST00000569684.1:n.1108T>G
NM_000294.2:c.684T>G NP_000285.1:p.Ala228=
NM_001172432.1:c.684T>G NP_001165903.1:p.Ala228=
NM_000294.3:c.684T>G MANE Select NP_000285.1:p.Ala228=
NM_001172432.2:c.684T>G NP_001165903.1:p.Ala228=