Canonical Allele Identifier: CA395659015

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767811G>T (hg19) ; chr16:g.30756490G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756490G>T , CM000678.2:g.30756490G>T	GRCh38
NC_000016.9:g.30767811G>T , CM000678.1:g.30767811G>T	GRCh37
NC_000016.8:g.30675312G>T	NCBI36
NG_016616.1:g.13192G>T
NG_016616.2:g.13192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.771G>T MANE Select	ENSP00000455607.1:p.Trp257Cys
ENST00000328273.11:c.783G>T	ENSP00000329968.7:p.Trp261Cys
ENST00000424889.7:c.771G>T	ENSP00000388571.3:p.Trp257Cys
ENST00000563588.5:c.771G>T	ENSP00000455607.1:p.Trp257Cys
ENST00000563913.5:n.1104G>T
ENST00000564838.5:n.931-100G>T
ENST00000565897.5:c.771G>T	ENSP00000457359.1:p.Trp257Cys
NM_000294.2:c.771G>T	NP_000285.1:p.Trp257Cys
NM_001172432.1:c.771G>T	NP_001165903.1:p.Trp257Cys
NM_000294.3:c.771G>T MANE Select	NP_000285.1:p.Trp257Cys
NM_001172432.2:c.771G>T	NP_001165903.1:p.Trp257Cys