Canonical Allele Identifier: CA8013260

Gene: PHKG2

Linked Data

• dbSNP Id: rs756904022
• ExAC: 16:30767621 C / T
• gnomAD v2: 16-30767621-C-T
• gnomAD v3: 16-30756300-C-T
• gnomAD v4: 16-30756300-C-T
• MyVariant Identifiers: chr16:g.30767621C>T (hg19) ; chr16:g.30756300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756300C>T , CM000678.2:g.30756300C>T	GRCh38
NC_000016.9:g.30767621C>T , CM000678.1:g.30767621C>T	GRCh37
NC_000016.8:g.30675122C>T	NCBI36
NG_016616.1:g.13002C>T
NG_016616.2:g.13002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.647+28C>T MANE Select	ENSP00000455607.1:n.647+28C>T
ENST00000328273.11:c.647+28C>T	ENSP00000329968.7:n.647+28C>T
ENST00000424889.7:c.647+28C>T	ENSP00000388571.3:n.647+28C>T
ENST00000563588.5:c.647+28C>T	ENSP00000455607.1:n.647+28C>T
ENST00000563913.5:n.980+28C>T
ENST00000564838.5:n.931-290C>T
ENST00000565897.5:c.647+28C>T	ENSP00000457359.1:n.647+28C>T
ENST00000565924.5:c.647+28C>T	ENSP00000455091.1:n.647+28C>T
ENST00000569684.1:n.1059+28C>T
NM_000294.2:c.647+28C>T	NP_000285.1:n.647+28C>T
NM_001172432.1:c.647+28C>T	NP_001165903.1:n.647+28C>T
NM_000294.3:c.647+28C>T MANE Select	NP_000285.1:n.647+28C>T
NM_001172432.2:c.647+28C>T	NP_001165903.1:n.647+28C>T