Canonical Allele Identifier: CA494912618
Gene: PHKG2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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