Canonical Allele Identifier: CA395655813

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30764591A>C (hg19) ; chr16:g.30753270A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753270A>C , CM000678.2:g.30753270A>C	GRCh38
NC_000016.9:g.30764591A>C , CM000678.1:g.30764591A>C	GRCh37
NC_000016.8:g.30672092A>C	NCBI36
NG_016616.1:g.9972A>C
NG_016616.2:g.9972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.365A>C MANE Select	ENSP00000455607.1:p.Lys122Thr
ENST00000328273.11:c.365A>C	ENSP00000329968.7:p.Lys122Thr
ENST00000424889.7:c.365A>C	ENSP00000388571.3:p.Lys122Thr
ENST00000561712.1:c.39A>C
ENST00000563588.5:c.365A>C	ENSP00000455607.1:p.Lys122Thr
ENST00000563607.1:c.*37A>C	ENSP00000454641.1:n.*37A>C
ENST00000563913.5:n.698A>C
ENST00000564838.5:n.739A>C
ENST00000565897.5:c.365A>C	ENSP00000457359.1:p.Lys122Thr
ENST00000565924.5:c.365A>C	ENSP00000455091.1:p.Lys122Thr
ENST00000569684.1:n.777A>C
NM_000294.2:c.365A>C	NP_000285.1:p.Lys122Thr
NM_001172432.1:c.365A>C	NP_001165903.1:p.Lys122Thr
NM_000294.3:c.365A>C MANE Select	NP_000285.1:p.Lys122Thr
NM_001172432.2:c.365A>C	NP_001165903.1:p.Lys122Thr