Canonical Allele Identifier: CA395656078

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753393-G-C
• MyVariant Identifiers: chr16:g.30764714G>C (hg19) ; chr16:g.30753393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753393G>C , CM000678.2:g.30753393G>C	GRCh38
NC_000016.9:g.30764714G>C , CM000678.1:g.30764714G>C	GRCh37
NC_000016.8:g.30672215G>C	NCBI36
NG_016616.1:g.10095G>C
NG_016616.2:g.10095G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.393-1G>C MANE Select	ENSP00000455607.1:n.393-1G>C
ENST00000328273.11:c.393-1G>C	ENSP00000329968.7:n.393-1G>C
ENST00000424889.7:c.393-1G>C	ENSP00000388571.3:n.393-1G>C
ENST00000561712.1:c.67-1G>C
ENST00000563588.5:c.393-1G>C	ENSP00000455607.1:n.393-1G>C
ENST00000563607.1:c.*65-1G>C	ENSP00000454641.1:n.*65-1G>C
ENST00000563913.5:n.726-1G>C
ENST00000564838.5:n.767-1G>C
ENST00000565897.5:c.393-1G>C	ENSP00000457359.1:n.393-1G>C
ENST00000565924.5:c.393-1G>C	ENSP00000455091.1:n.393-1G>C
ENST00000569684.1:n.805-1G>C
NM_000294.2:c.393-1G>C	NP_000285.1:n.393-1G>C
NM_001172432.1:c.393-1G>C	NP_001165903.1:n.393-1G>C
NM_000294.3:c.393-1G>C MANE Select	NP_000285.1:n.393-1G>C
NM_001172432.2:c.393-1G>C	NP_001165903.1:n.393-1G>C