Canonical Allele Identifier: CA8013179

Gene: PHKG2

Linked Data

• dbSNP Id: rs375764924
• ExAC: 16:30764744 T / C
• gnomAD v2: 16-30764744-T-C
• gnomAD v3: 16-30753423-T-C
• gnomAD v4: 16-30753423-T-C
• MyVariant Identifiers: chr16:g.30764744T>C (hg19) ; chr16:g.30753423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753423T>C , CM000678.2:g.30753423T>C	GRCh38
NC_000016.9:g.30764744T>C , CM000678.1:g.30764744T>C	GRCh37
NC_000016.8:g.30672245T>C	NCBI36
NG_016616.1:g.10125T>C
NG_016616.2:g.10125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.422T>C MANE Select	ENSP00000455607.1:p.Val141Ala
ENST00000328273.11:c.422T>C	ENSP00000329968.7:p.Val141Ala
ENST00000424889.7:c.422T>C	ENSP00000388571.3:p.Val141Ala
ENST00000561712.1:c.96T>C
ENST00000563588.5:c.422T>C	ENSP00000455607.1:p.Val141Ala
ENST00000563607.1:c.*94T>C	ENSP00000454641.1:n.*94T>C
ENST00000563913.5:n.755T>C
ENST00000564838.5:n.796T>C
ENST00000565897.5:c.422T>C	ENSP00000457359.1:p.Val141Ala
ENST00000565924.5:c.422T>C	ENSP00000455091.1:p.Val141Ala
ENST00000569684.1:n.834T>C
NM_000294.2:c.422T>C	NP_000285.1:p.Val141Ala
NM_001172432.1:c.422T>C	NP_001165903.1:p.Val141Ala
NM_000294.3:c.422T>C MANE Select	NP_000285.1:p.Val141Ala
NM_001172432.2:c.422T>C	NP_001165903.1:p.Val141Ala