Canonical Allele Identifier: CA494912428
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767727C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756406C>T , CM000678.2:g.30756406C>T GRCh38
NC_000016.9:g.30767727C>T , CM000678.1:g.30767727C>T GRCh37
NC_000016.8:g.30675228C>T NCBI36
NG_016616.1:g.13108C>T
NG_016616.2:g.13108C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000563588.6:c.687C>T MANE Select ENSP00000455607.1:p.Gly229=
ENST00000328273.11:c.699C>T ENSP00000329968.7:p.Gly233=
ENST00000424889.7:c.687C>T ENSP00000388571.3:p.Gly229=
ENST00000563588.5:c.687C>T ENSP00000455607.1:p.Gly229=
ENST00000563913.5:n.1020C>T
ENST00000564838.5:n.931-184C>T
ENST00000565897.5:c.687C>T ENSP00000457359.1:p.Gly229=
ENST00000565924.5:c.687C>T ENSP00000455091.1:p.Gly229=
ENST00000569684.1:n.1111C>T
NM_000294.2:c.687C>T NP_000285.1:p.Gly229=
NM_001172432.1:c.687C>T NP_001165903.1:p.Gly229=
NM_000294.3:c.687C>T MANE Select NP_000285.1:p.Gly229=
NM_001172432.2:c.687C>T NP_001165903.1:p.Gly229=