Canonical Allele Identifier: CA8013285

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2373221
• ClinVar RCV Id: RCV003004645
• dbSNP Id: rs368436227
• ExAC: 16:30767797 A / G
• gnomAD v2: 16-30767797-A-G
• gnomAD v3: 16-30756476-A-G
• gnomAD v4: 16-30756476-A-G
• MyVariant Identifiers: chr16:g.30767797A>G (hg19) ; chr16:g.30756476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756476A>G , CM000678.2:g.30756476A>G	GRCh38
NC_000016.9:g.30767797A>G , CM000678.1:g.30767797A>G	GRCh37
NC_000016.8:g.30675298A>G	NCBI36
NG_016616.1:g.13178A>G
NG_016616.2:g.13178A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.757A>G MANE Select	ENSP00000455607.1:p.Ser253Gly
ENST00000328273.11:c.769A>G	ENSP00000329968.7:p.Ser257Gly
ENST00000424889.7:c.757A>G	ENSP00000388571.3:p.Ser253Gly
ENST00000563588.5:c.757A>G	ENSP00000455607.1:p.Ser253Gly
ENST00000563913.5:n.1090A>G
ENST00000564838.5:n.931-114A>G
ENST00000565897.5:c.757A>G	ENSP00000457359.1:p.Ser253Gly
ENST00000565924.5:c.757A>G	ENSP00000455091.1:p.Ser253Gly
NM_000294.2:c.757A>G	NP_000285.1:p.Ser253Gly
NM_001172432.1:c.757A>G	NP_001165903.1:p.Ser253Gly
NM_000294.3:c.757A>G MANE Select	NP_000285.1:p.Ser253Gly
NM_001172432.2:c.757A>G	NP_001165903.1:p.Ser253Gly