Canonical Allele Identifier: CA8013261

Gene: PHKG2

Linked Data

• dbSNP Id: rs778463125
• ExAC: 16:30767622 G / A
• gnomAD v2: 16-30767622-G-A
• gnomAD v3: 16-30756301-G-A
• gnomAD v4: 16-30756301-G-A
• MyVariant Identifiers: chr16:g.30767622G>A (hg19) ; chr16:g.30756301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756301G>A , CM000678.2:g.30756301G>A	GRCh38
NC_000016.9:g.30767622G>A , CM000678.1:g.30767622G>A	GRCh37
NC_000016.8:g.30675123G>A	NCBI36
NG_016616.1:g.13003G>A
NG_016616.2:g.13003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.647+29G>A MANE Select	ENSP00000455607.1:n.647+29G>A
ENST00000328273.11:c.647+29G>A	ENSP00000329968.7:n.647+29G>A
ENST00000424889.7:c.647+29G>A	ENSP00000388571.3:n.647+29G>A
ENST00000563588.5:c.647+29G>A	ENSP00000455607.1:n.647+29G>A
ENST00000563913.5:n.980+29G>A
ENST00000564838.5:n.931-289G>A
ENST00000565897.5:c.647+29G>A	ENSP00000457359.1:n.647+29G>A
ENST00000565924.5:c.647+29G>A	ENSP00000455091.1:n.647+29G>A
ENST00000569684.1:n.1059+29G>A
NM_000294.2:c.647+29G>A	NP_000285.1:n.647+29G>A
NM_001172432.1:c.647+29G>A	NP_001165903.1:n.647+29G>A
NM_000294.3:c.647+29G>A MANE Select	NP_000285.1:n.647+29G>A
NM_001172432.2:c.647+29G>A	NP_001165903.1:n.647+29G>A