Canonical Allele Identifier: CA8013128

Gene: PHKG2

Linked Data

• dbSNP Id: rs747427432
• ExAC: 16:30764501 C / T
• gnomAD v2: 16-30764501-C-T
• gnomAD v4: 16-30753180-C-T
• MyVariant Identifiers: chr16:g.30764501C>T (hg19) ; chr16:g.30753180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753180C>T , CM000678.2:g.30753180C>T	GRCh38
NC_000016.9:g.30764501C>T , CM000678.1:g.30764501C>T	GRCh37
NC_000016.8:g.30672002C>T	NCBI36
NG_016616.1:g.9882C>T
NG_016616.2:g.9882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.327-52C>T MANE Select	ENSP00000455607.1:n.327-52C>T
ENST00000328273.11:c.327-52C>T	ENSP00000329968.7:n.327-52C>T
ENST00000424889.7:c.327-52C>T	ENSP00000388571.3:n.327-52C>T
ENST00000563588.5:c.327-52C>T	ENSP00000455607.1:n.327-52C>T
ENST00000563607.1:c.263-52C>T	ENSP00000454641.1:n.263-52C>T
ENST00000563913.5:n.660-52C>T
ENST00000564838.5:n.701-52C>T
ENST00000565897.5:c.327-52C>T	ENSP00000457359.1:n.327-52C>T
ENST00000565924.5:c.327-52C>T	ENSP00000455091.1:n.327-52C>T
ENST00000569684.1:n.687C>T
NM_000294.2:c.327-52C>T	NP_000285.1:n.327-52C>T
NM_001172432.1:c.327-52C>T	NP_001165903.1:n.327-52C>T
NM_000294.3:c.327-52C>T MANE Select	NP_000285.1:n.327-52C>T
NM_001172432.2:c.327-52C>T	NP_001165903.1:n.327-52C>T