Canonical Allele Identifier: CA395659005

Gene: PHKG2

Linked Data

• dbSNP Id: rs775683935
• gnomAD v4: 16-30756488-T-C
• MyVariant Identifiers: chr16:g.30767809T>C (hg19) ; chr16:g.30756488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756488T>C , CM000678.2:g.30756488T>C	GRCh38
NC_000016.9:g.30767809T>C , CM000678.1:g.30767809T>C	GRCh37
NC_000016.8:g.30675310T>C	NCBI36
NG_016616.1:g.13190T>C
NG_016616.2:g.13190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.769T>C MANE Select	ENSP00000455607.1:p.Trp257Arg
ENST00000328273.11:c.781T>C	ENSP00000329968.7:p.Trp261Arg
ENST00000424889.7:c.769T>C	ENSP00000388571.3:p.Trp257Arg
ENST00000563588.5:c.769T>C	ENSP00000455607.1:p.Trp257Arg
ENST00000563913.5:n.1102T>C
ENST00000564838.5:n.931-102T>C
ENST00000565897.5:c.769T>C	ENSP00000457359.1:p.Trp257Arg
NM_000294.2:c.769T>C	NP_000285.1:p.Trp257Arg
NM_001172432.1:c.769T>C	NP_001165903.1:p.Trp257Arg
NM_000294.3:c.769T>C MANE Select	NP_000285.1:p.Trp257Arg
NM_001172432.2:c.769T>C	NP_001165903.1:p.Trp257Arg