Canonical Allele Identifier: CA494912616
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767802C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756481C>A , CM000678.2:g.30756481C>A GRCh38
NC_000016.9:g.30767802C>A , CM000678.1:g.30767802C>A GRCh37
NC_000016.8:g.30675303C>A NCBI36
NG_016616.1:g.13183C>A
NG_016616.2:g.13183C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000563588.6:c.762C>A MANE Select ENSP00000455607.1:p.Ser254=
ENST00000328273.11:c.774C>A ENSP00000329968.7:p.Ser258=
ENST00000424889.7:c.762C>A ENSP00000388571.3:p.Ser254=
ENST00000563588.5:c.762C>A ENSP00000455607.1:p.Ser254=
ENST00000563913.5:n.1095C>A
ENST00000564838.5:n.931-109C>A
ENST00000565897.5:c.762C>A ENSP00000457359.1:p.Ser254=
ENST00000565924.5:c.762C>A ENSP00000455091.1:p.Ser254=
NM_000294.2:c.762C>A NP_000285.1:p.Ser254=
NM_001172432.1:c.762C>A NP_001165903.1:p.Ser254=
NM_000294.3:c.762C>A MANE Select NP_000285.1:p.Ser254=
NM_001172432.2:c.762C>A NP_001165903.1:p.Ser254=