Canonical Allele Identifier: CA395656355

Gene: PHKG2

Linked Data

• dbSNP Id: rs1567261900
• gnomAD v4: 16-30753438-C-T
• MyVariant Identifiers: chr16:g.30764759C>T (hg19) ; chr16:g.30753438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753438C>T , CM000678.2:g.30753438C>T	GRCh38
NC_000016.9:g.30764759C>T , CM000678.1:g.30764759C>T	GRCh37
NC_000016.8:g.30672260C>T	NCBI36
NG_016616.1:g.10140C>T
NG_016616.2:g.10140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.437C>T MANE Select	ENSP00000455607.1:p.Ala146Val
ENST00000328273.11:c.437C>T	ENSP00000329968.7:p.Ala146Val
ENST00000424889.7:c.437C>T	ENSP00000388571.3:p.Ala146Val
ENST00000561712.1:c.111C>T
ENST00000563588.5:c.437C>T	ENSP00000455607.1:p.Ala146Val
ENST00000563607.1:c.*109C>T	ENSP00000454641.1:n.*109C>T
ENST00000563913.5:n.770C>T
ENST00000564838.5:n.811C>T
ENST00000565897.5:c.437C>T	ENSP00000457359.1:p.Ala146Val
ENST00000565924.5:c.437C>T	ENSP00000455091.1:p.Ala146Val
ENST00000569684.1:n.849C>T
NM_000294.2:c.437C>T	NP_000285.1:p.Ala146Val
NM_001172432.1:c.437C>T	NP_001165903.1:p.Ala146Val
NM_000294.3:c.437C>T MANE Select	NP_000285.1:p.Ala146Val
NM_001172432.2:c.437C>T	NP_001165903.1:p.Ala146Val