Canonical Allele Identifier: CA494912458
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767733A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756412A>T , CM000678.2:g.30756412A>T GRCh38
NC_000016.9:g.30767733A>T , CM000678.1:g.30767733A>T GRCh37
NC_000016.8:g.30675234A>T NCBI36
NG_016616.1:g.13114A>T
NG_016616.2:g.13114A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000563588.6:c.693A>T MANE Select ENSP00000455607.1:p.Pro231=
ENST00000328273.11:c.705A>T ENSP00000329968.7:p.Pro235=
ENST00000424889.7:c.693A>T ENSP00000388571.3:p.Pro231=
ENST00000563588.5:c.693A>T ENSP00000455607.1:p.Pro231=
ENST00000563913.5:n.1026A>T
ENST00000564838.5:n.931-178A>T
ENST00000565897.5:c.693A>T ENSP00000457359.1:p.Pro231=
ENST00000565924.5:c.693A>T ENSP00000455091.1:p.Pro231=
ENST00000569684.1:n.1117A>T
NM_000294.2:c.693A>T NP_000285.1:p.Pro231=
NM_001172432.1:c.693A>T NP_001165903.1:p.Pro231=
NM_000294.3:c.693A>T MANE Select NP_000285.1:p.Pro231=
NM_001172432.2:c.693A>T NP_001165903.1:p.Pro231=