Canonical Allele Identifier: CA8013194

Gene: PHKG2

Linked Data

• dbSNP Id: rs750553595
• ExAC: 16:30764830 T / G
• gnomAD v2: 16-30764830-T-G
• gnomAD v4: 16-30753509-T-G
• MyVariant Identifiers: chr16:g.30764830T>G (hg19) ; chr16:g.30753509T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753509T>G , CM000678.2:g.30753509T>G	GRCh38
NC_000016.9:g.30764830T>G , CM000678.1:g.30764830T>G	GRCh37
NC_000016.8:g.30672331T>G	NCBI36
NG_016616.1:g.10211T>G
NG_016616.2:g.10211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.508T>G MANE Select	ENSP00000455607.1:p.Ser170Ala
ENST00000328273.11:c.508T>G	ENSP00000329968.7:p.Ser170Ala
ENST00000424889.7:c.508T>G	ENSP00000388571.3:p.Ser170Ala
ENST00000561712.1:c.182T>G
ENST00000563588.5:c.508T>G	ENSP00000455607.1:p.Ser170Ala
ENST00000563607.1:c.*180T>G	ENSP00000454641.1:n.*180T>G
ENST00000563913.5:n.841T>G
ENST00000564838.5:n.882T>G
ENST00000565897.5:c.508T>G	ENSP00000457359.1:p.Ser170Ala
ENST00000565924.5:c.508T>G	ENSP00000455091.1:p.Ser170Ala
ENST00000569684.1:n.920T>G
NM_000294.2:c.508T>G	NP_000285.1:p.Ser170Ala
NM_001172432.1:c.508T>G	NP_001165903.1:p.Ser170Ala
NM_000294.3:c.508T>G MANE Select	NP_000285.1:p.Ser170Ala
NM_001172432.2:c.508T>G	NP_001165903.1:p.Ser170Ala