Canonical Allele Identifier: CA8013180

Gene: PHKG2

Linked Data

• dbSNP Id: rs768128006
• ExAC: 16:30764745 G / A
• gnomAD v2: 16-30764745-G-A
• gnomAD v4: 16-30753424-G-A
• MyVariant Identifiers: chr16:g.30764745G>A (hg19) ; chr16:g.30753424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753424G>A , CM000678.2:g.30753424G>A	GRCh38
NC_000016.9:g.30764745G>A , CM000678.1:g.30764745G>A	GRCh37
NC_000016.8:g.30672246G>A	NCBI36
NG_016616.1:g.10126G>A
NG_016616.2:g.10126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.423G>A MANE Select	ENSP00000455607.1:p.Val141=
ENST00000328273.11:c.423G>A	ENSP00000329968.7:p.Val141=
ENST00000424889.7:c.423G>A	ENSP00000388571.3:p.Val141=
ENST00000561712.1:c.97G>A
ENST00000563588.5:c.423G>A	ENSP00000455607.1:p.Val141=
ENST00000563607.1:c.*95G>A	ENSP00000454641.1:n.*95G>A
ENST00000563913.5:n.756G>A
ENST00000564838.5:n.797G>A
ENST00000565897.5:c.423G>A	ENSP00000457359.1:p.Val141=
ENST00000565924.5:c.423G>A	ENSP00000455091.1:p.Val141=
ENST00000569684.1:n.835G>A
NM_000294.2:c.423G>A	NP_000285.1:p.Val141=
NM_001172432.1:c.423G>A	NP_001165903.1:p.Val141=
NM_000294.3:c.423G>A MANE Select	NP_000285.1:p.Val141=
NM_001172432.2:c.423G>A	NP_001165903.1:p.Val141=