Canonical Allele Identifier: CA494684874
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30764877A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30753556A>C , CM000678.2:g.30753556A>C GRCh38
NC_000016.9:g.30764877A>C , CM000678.1:g.30764877A>C GRCh37
NC_000016.8:g.30672378A>C NCBI36
NG_016616.1:g.10258A>C
NG_016616.2:g.10258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.555A>C MANE Select ENSP00000455607.1:p.Arg185=
ENST00000328273.11:c.555A>C ENSP00000329968.7:p.Arg185=
ENST00000424889.7:c.555A>C ENSP00000388571.3:p.Arg185=
ENST00000561712.1:c.229A>C
ENST00000563588.5:c.555A>C ENSP00000455607.1:p.Arg185=
ENST00000563913.5:n.888A>C
ENST00000564838.5:n.929A>C
ENST00000565897.5:c.555A>C ENSP00000457359.1:p.Arg185=
ENST00000565924.5:c.555A>C ENSP00000455091.1:p.Arg185=
ENST00000569684.1:n.967A>C
NM_000294.2:c.555A>C NP_000285.1:p.Arg185=
NM_001172432.1:c.555A>C NP_001165903.1:p.Arg185=
NM_000294.3:c.555A>C MANE Select NP_000285.1:p.Arg185=
NM_001172432.2:c.555A>C NP_001165903.1:p.Arg185=