Canonical Allele Identifier: CA395659162

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30756590-A-G
• MyVariant Identifiers: chr16:g.30767911A>G (hg19) ; chr16:g.30756590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756590A>G , CM000678.2:g.30756590A>G	GRCh38
NC_000016.9:g.30767911A>G , CM000678.1:g.30767911A>G	GRCh37
NC_000016.8:g.30675412A>G	NCBI36
NG_016616.1:g.13292A>G
NG_016616.2:g.13292A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.802A>G MANE Select	ENSP00000455607.1:p.Ile268Val
ENST00000328273.11:c.814A>G	ENSP00000329968.7:p.Ile272Val
ENST00000424889.7:c.802A>G	ENSP00000388571.3:p.Ile268Val
ENST00000563588.5:c.802A>G	ENSP00000455607.1:p.Ile268Val
ENST00000563913.5:n.1135A>G
ENST00000564838.5:n.931A>G
NM_000294.2:c.802A>G	NP_000285.1:p.Ile268Val
NM_001172432.1:c.802A>G	NP_001165903.1:p.Ile268Val
NM_000294.3:c.802A>G MANE Select	NP_000285.1:p.Ile268Val
NM_001172432.2:c.802A>G	NP_001165903.1:p.Ile268Val